Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9
Phase: PHASE1
Conditions: Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
Sponsor: Emily de los Reyes

Official Title:
Phase I/IIa Gene Transfer Clinical Trial for Variant Late 
Infantile Neuronal Ceroid Lipofuscinosis, Delivering the 
CLN6 Gene by Self-Complementary AAV9 
NCT Number:
NCT02725580
Document Date: Protocol Version 17.0 (20-May-2020)

Title Page 
1. 
TITLE PAGE 
CLINICAL STUDY PROTOCOL 
 
PHASE I/IIA GENE TRANSFER CLINICAL TRIAL FOR 
VARIANT LATE INFANTILE NEURONAL CEROID 
LIPOFUSCINOSIS, DELIVERING THE CLN6 GENE BY 
SELF-COMPLEMENTARY AAV9 
 
Protocol Number: AT-GTX-501-01 
 
Version 17.0: 20 May 2020 
(replaces Version 16.0: 4 March 2020) 
 
US IND Number: 16854 
Study Treatment: AT-GTX-501 
 
Sponsor 
Amicus Therapeutics, Inc. 
1 Cedar Brook Drive 
Cranbury, NJ 08512, USA 
Phone: + 1 609-662-2000 
 
 
The information in this document is the property of Amicus Therapeutics and is strictly 
confidential. Neither the document nor the information contained herein may be reproduced or 
disclosed outside of Amicus Therapeutics without the prior written consent of the company, 
except to the extent required under applicable laws or regulations. 

A mi c us T h er a p e uti cs 
Pr ot o c ol A T- G T X- 5 0 1- 0 1 V ersi o n 1 7. 0 
SI G N A T U R E P A G E 
T his cli pi c al st u d y pr ot o c ol w as s u bj e ct t o criti c al r e vi e w a n d h as b e e n a p pr o v e d b y A mi c us 
T h er a p e uti cs ( A mi c us): 
T h e i nf or m ati o n it c o nt ai ns is c o nsist e nt wit h t h e f oll o wi n g: 
• 
T h e c urr e nt b e n efit-ris k e v al u ati o n of A T- G T X- 5 0 1 
• 
T h e m or al, et hi c al, a n d s ci e ntifi c pri n ci pl es g o v er ni n g cli ni c al r es e ar c h, as s et f ort h i n 
t he c urr e nt v ersi o n of t h e D e cl ar ati o n of H elsi n ki, t h e pri n ci pl es of G o o d Cli ni c al 
Pr a cti c e ( G C P) as d es cri b e d i n t h e U S C o d e of F e d er al R e g ul ati o ns ( C F R) P arts 5 0, 
5 4, 5 6, a n d 3 1 2, a n d i n t h e I nt er n ati o n al C o nf er e n c e o n H ar m o ni z ati o n (I C H) G C P 
E 6 g ui d eli n es. 
S p o ns or: 
T h e i n v esti g at or will b e s u p pli e d wit h d et ails of a n y si g nifi c a nt or n e w fi n di n gs r el at e d t o 
tr e at m e nt wit h A T- G T X- 5 0 1. 
D at e: Jf 67 j _ _ VI .J..r,) _J) Si g n at ur e: _ _
- - - - - - -
 M D, P h D 
 Cli ni c al R es e ar c h 
A mi c us T h er a p e uti cs 
P a g e 2 of 6 9 
P P D
P P D
P P D

A mic us T hera pe utics  
Pr ot oc ol A T- G T X - 5 0 1- 0 1 Versi o n 1 7. 0 
Pa ge 3 of 6 9 
I N V E S TI G A T O R’ S A G R E E M E N T 
I ha ve recei ve d a n d rea d t he I n vesti gat or’s Br oc h ure f or A T-G T X - 5 0 1. I c o nfir m t hat I ha ve rea d 
t his cli nical st u d y pr ot oc ol. I u n dersta n d it a n d a gree t o c o n d uct t he st u d y as o utli ne d. I will w or k 
acc or di n g t o t he m oral, et hical, a n d scie ntific pri nci ples g o ver ni n g cli nical researc h, as set f ort h 
i n t he c urre nt versi o n of t he Declarati o n of Helsi n ki a n d t he pri nci ples of G C P descri be d i n t he 
U S  C F R  Parts 5 0, 5 4, 5 6, a n d 3 1 2, a n d i n t he I C H G C P E 6 g ui deli nes. I will als o w or k i n 
acc or da nce wit h a p plica ble l ocal re q uire me nts.  
I n vesti g at or: 
Date:  
 
Si g nat ure:   
 
 
 
 M D 
Nati o n wi de C hil dre n’s H os pital  
P P D

A mic us T hera pe utics  
Pr ot oc ol A T- G T X - 5 0 1- 0 1 Versi o n 1 7. 0 
Pa ge 4 of 6 9 
P R O C E D U R E S I N C A S E O F E M E R G E N C Y  
T a ble  1: 
C o nt act I nf or m ati o n f or Seri o us A d verse E ve nt Re p orti n g  
R ole  
C o nt act I nf or m ati o n  
Re p orti n g of seri o us a d verse e ve nts  
Pri m ar y met h o d of c o nt act:  
Safet y F A X n u m ber: + 1 8 6 6 -4 2 2 -1 2 7 8  
If fa x is u ns uccessf ul, please use: 
Safet y e mail a d dress:  safet yre p orti n g @a mic usr x.c o m 
I n q uiries relate d t o seri o us a d verse 
e ve nt re p orti n g  
 M D  
 Gl o bal Hea d of Dr u g Safet y  
A mic us T hera pe utics  
Office n u m ber: 
 
M o bile n u m ber: 
 
P P D
P P D
P P D
P P D

A mic us T hera pe utics  
Pr ot oc ol A T- G T X - 5 0 1- 0 1 Versi o n 1 7. 0 
Pa ge 5 of 6 9 
2.  
S Y N O P SI S  
N a me of S p o ns or: A mic us T hera pe utics ( A mic us)  
N a me of St u d y Tre at me nt:  A T -G T X -5 0 1  
N a me of Acti ve I n gre die nt:  sc A A V 9 c o ntai ni n g t he h u ma n C L N 6 ge ne  
St u d y N u m ber: A T -G T X -5 0 1 -0 1  
P h ase:  I/IIa 
C o u ntr y: U S  
Title of St u d y: P hase I/IIa Ge ne Tra nsfer Cli nical Trial f or Varia nt Late I nfa ntile Ne ur o nal Cer oi d 
Li p of usci n osis, Deli veri n g t he C L N 6  Ge ne b y Self -C o m ple me ntar y A A V 9  
St u d y Ce nter: Nati o n wi de C hil dre n’s H os pital, C ol u m b us, O hi o  
Pri nci p al I n vesti g at or: 
 M D 
St u die d Peri o d ( ye ars):  
First s u bject, first visit: First Q uarter 2 0 1 6  
Esti mate d date last s u bject c o m plete d: F o urt h Q uarter 2 0 2 1  
O bjecti ves:  
Pri m ar y:  
T he pri mar y o utc o me f or t his cli nical st u d y is safet y. T his is e val uate d base d o n d ose-li miti n g t o xicit y 
( D L T), defi ne d as a n y u na ntici pate d a d verse e ve nt ( A E) t hat is relate d t o A T-G T X -5 0 1 (e ve nts assesse d 
b y t he i n vesti gat or as defi nitel y, pr o ba bl y, or p ossi bl y relate d) a n d is Gra de 3 or hi g her, acc or di n g t o t he 
C o m m o n Ter mi n ol o g y Criteria f or A d verse E ve nts ( C T C A E) versi o n 4. 0 ( p u blis he d 2 8 Ma y 2 0 0 9).  
Sec o n d ar y a n d E x pl or at or y:  
T he sec o n dar y a n d e x pl orat or y o utc o me meas ures are t o e val uate t he p ote ntial f or pr ol o n ge d s ur vi val or 
mai nte na nce of m ot or, la n g ua ge, vis ual, a n d c o g niti ve f u ncti o n. T he o utc o me meas ures i ncl u de t he 
Ha m b ur g (scale), t he U nifie d Batte n Disease Rati n g Scale ( U B D R S), brai n ma g netic res o na nce i ma gi n g 
( M RI), c o g niti ve a n d la n g ua ge e val uati o ns, t he Pe diatric Q ualit y of Life™ ( Pe ds Q L) i n ve nt or y, 
o p ht hal m ol o gic e xa mi nati o ns, a n d l o n g -ter m m o nit ori n g electr oe nce p hal o gra ms. T he pri mar y efficac y 
o utc o me will be t he Ha m b ur g M ot or a n d La n g ua ge sc ores.  
St u d y Desi g n a n d Met h o d ol o g y:   
A T -G T X -5 0 1 is a ge ne tra nsfer pr o d uc t i nte n de d f or patie nts wit h varia nt late i nfa ntile ne ur o nal cer oi d 
li p of usci n osis ass ociate d wit h m utati o n(s) i n t he C L N 6  ge ne ( v LI N C L 6 disease), a s u bset of patie nts 
wit h C L N 6 Batte n disease. I n earlier de vel o p me nt w or k, t he c o de use d f or t his pr o d uct wa s 
sc A A V 9. C B. C L N 6, f urt her descri be d as a self-c o m ple me ntar y a de n o -ass ociate d viral vect or, ser ot y pe 9 
(sc A A V 9) c o ntai ni n g t he h u ma n C L N 6  ge ne u n der t he c o ntr ol of a h y bri d pr o m oter (a c yt o me gal o vir us 
e n ha ncer f use d t o t he c hic ke n -β acti n pr o m oter).  
T his is  a n o pe n -la bel, si n gle-d ose st u d y of A T -G T X -5 0 1 a d mi nistere d b y a si n gle i ntrat hecal i njecti o n. 
S afet y a n d efficac y are e val uate d o ver a 2 -year peri o d.  The efficac y assess me nts i n t his st u d y are t o 
e val uate m ot or, la n g ua ge, vis ual, a n d c o g niti ve f u ncti o n, as well as s ur vi val a n d ot her o utc o me 
meas ures. I n Year 1, s u bjects are teste d at baseli ne, recei ve A T -G T X -5 0 1  o n Da y 0, a n d ret ur n f or visits 
o n Da ys 7, 1 4, 2 1, a n d 3 0 ( Visits 3 t o 7), a n d t he n e ver y 3 m o nt hs f or Visits 7 ( M o nt h 3) t o 1 0 
( M o nt h 1 2). I n Year 2, data are c ollecte d e ver y 3 m o nt hs.  
D uri n g t he c o n d uct of t he st u d y, t he c or o na vir us disease 2 0 1 9 ( C O VI D -1 9) pa n de mic e mer g e d a n d 
i m pe de d t he c o n d uct of site visits a n d la b orat or y testi n g d ue t o q uara nti nes, tra vel restricti o ns, a n d ris k 
of  i nfecti o n. Theref ore, re m ote visits were i m ple me nte d  per healt h a ut h orit y g ui da nce. T hese 
c o nti n ge nc y meas ures are pla n ne d t o be f oll o we d u ntil res ol uti o n of  C O VI D -1 9 relate d iss ues s pecific t o 
t he i n di vi d ual s u bject.  
P P D

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Page 6 of 69 
Unscheduled visits may occur if the investigator determines that they are necessary. Following the 
current study, there is a long-term follow-up study in which data will continue to be collected 
(Study AT-GTX-501-02). 
Number of Subjects (Planned): Approximately 13 
Diagnosis: variant late infantile neuronal ceroid lipofuscinosis (disease) 
Criteria for Inclusion:  
1. Diagnosis of vLINCL6 disease determined by genotype available at screening (by a College of 
American Pathologists/Clinical Laboratory Improvement Amendments [CAP/CLIA]-certified 
laboratory [or a non-US laboratory with an equivalent national accreditation/certification]) 
2. A score of ≥ 3 on the quantitative clinical assessment of the Hamburg motor-language aggregate 
score at screening  
3. Aged ≥ 1 year 
4. Ambulatory or able to walk with assistance 
Criteria for Exclusion:  
1. Presence of another inherited neurologic disease, eg, other forms of Batten disease (also known 
as neuronal ceroid lipofuscinosis) or seizures unrelated to vLINCL6 disease (Subjects with 
febrile seizures may be eligible at discretion of the investigator.) 
2. Presence of another neurological illness that may have caused cognitive decline (eg, trauma, 
meningitis, hemorrhage) before screening 
3. Active viral infection (includes HIV or serology positive for hepatitis B or C) 
4. Has received stem cell or bone marrow transplantation for vLINCL6 disease 
5. Contraindications for intrathecal administration of the product or lumbar puncture, such as 
bleeding disorders or other medical conditions (eg, spina bifida, meningitis, or clotting 
abnormalities)  
6. Contraindications for magnetic resonance imaging (MRI) scans (eg, cardiac pacemaker, metal 
fragment or chip in the eye, aneurysm clip in the brain) 
7. Episode of generalized motor status epilepticus within 4 weeks before the gene transfer visit 
(Visit 2) 
8. Severe infection (eg, pneumonia, pyelonephritis, or meningitis) within 4 weeks before the gene 
transfer visit (Visit 2) (Enrollment may be postponed.) 
9. Has received any investigational medication within 30 days before the gene transfer visit 
(Visit 2) 
10. Anti-AAV9 antibody titers > 1:50 as determined by ELISA (enzyme-linked immunosorbent 
assay) 
11. Has a medical condition or extenuating circumstance that, in the opinion of the investigator, 
might compromise the subject’s ability to comply with the protocol-required testing or 
procedures or compromise the subject’s wellbeing, safety, or clinical interpretability  
12. Pregnancy any time during the study (Any female subject judged by the investigator to be of 
childbearing potential will be tested for pregnancy.) 
13. Abnormal laboratory values from screening considered clinically significant (gamma-glutamyl 
transferase > 3 times the upper limit of normal, bilirubin ≥ 3.0 mg/dL, creatinine ≥ 1.8 mg/dL, 
hemoglobin < 8 or > 18 g/dL, white blood cell count > 15,000 per cmm) 

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Protocol AT-GTX-501-01 Version 17.0 
Page 7 of 69 
14. Family does not want to disclose subject’s study participation with primary care physician and 
other medical providers. 
15. History of or current chemotherapy, radiotherapy, or other immunosuppression therapy within 
the 30 days preceding screening (Corticosteroid treatment may be permitted at the discretion of 
the investigator.) 
16. Has 2 consecutive abnormal liver tests at screening (> 2 times the upper limit of normal). Liver 
enzymes will be re-tested once if abnormal upon initial screening. 
Investigational Product, Dosage, and Mode of Administration: 
AT-GTX-501 is delivered via a single intrathecal injection at a dose of 1.5 x 1013 vector genomes (as 
assessed by polymerase chain reaction [PCR] and relative to a supercoiled standard), after being 
premixed with Omnipaque™ contrast.  
Study Duration: 2 years (for each individual subject) 
Reference Therapy, Dosage, and Mode of Administration: Not applicable  
Safety Assessments: 
• 
AEs 
• 
Clinical safety laboratory assessments (including serum chemistry, hematology, and 
urinalysis)  
• 
Immunogenicity assessments 
• 
12-lead electrocardiograms 
• 
Concomitant Medications 
• 
Neurological examinations 
• 
Physical examinations (including weight, height, and vital signs) 
Efficacy Assessments: 
• 
Hamburg scale 
• 
UBDRS 
• 
Cognitive and language evaluations 
• 
Brain MRIs 
• 
Ophthalmologic examinations 
• 
Ocular coherence tomography (OCT)  
• 
electroencephalograms (EEGs) 
• 
PedsQL 
• 
Derived measures (eg, Survival, analyses relative to historical control or interview data) 
Statistical Methods: 
This is a phase I/IIa study, inclusive of safety and efficacy. The primary outcome (safety) will be 
evaluated based on the development of DLTs. The secondary and exploratory outcome measures are to 
evaluate the potential for prolonged survival or maintenance of motor, language, visual, and cognitive 
function. The primary efficacy outcome will be the Hamburg Motor and Language scores. 
Descriptions of all endpoints and their planned analyses will be detailed in the Statistical Analysis Plan 
(SAP). Baseline is generally defined as the measure immediately preceding receipt of AT-GTX-501. 

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Protocol AT-GTX-501-01 Version 17.0 
Page 8 of 69 
3. 
TABLE OF CONTENTS AND LIST OF TABLES  
TABLE OF CONTENTS 
1. 
TITLE PAGE ................................................................................................................1 
SIGNATURE PAGE .......................................................................................................................2 
INVESTIGATOR’S AGREEMENT ...............................................................................................3 
PROCEDURES IN CASE OF EMERGENCY ...............................................................................4 
2. 
SYNOPSIS ...................................................................................................................5 
3. 
TABLE OF CONTENTS AND LIST OF TABLES ....................................................8 
4. 
LIST OF ABBREVIATIONS AND DEFINITIONS OF TERMS .............................13 
5. 
INTRODUCTION ......................................................................................................15 
5.1. 
Background .................................................................................................................15 
5.2. 
Study Treatment ..........................................................................................................15 
5.3. 
Study Rationale ...........................................................................................................16 
5.3.1. 
Overview of Study Design ..........................................................................................16 
5.3.2. 
Rationale for Study Treatment ....................................................................................16 
5.3.3. 
Rationale for Dose and Route of Administration .......................................................16 
5.4. 
Summary of Key Nonclinical Results ........................................................................17 
5.5. 
Study Population .........................................................................................................18 
6. 
OBJECTIVES AND PURPOSE .................................................................................19 
6.1. 
Primary Objective .......................................................................................................19 
6.2. 
Secondary Objectives .................................................................................................19 
7. 
INVESTIGATIONAL PLAN .....................................................................................20 
7.1. 
Overall Study Design ..................................................................................................20 
7.2. 
Number of Subjects ....................................................................................................20 
7.3. 
Treatment Assignment ................................................................................................20 
7.4. 
Dose Adjustment Criteria ...........................................................................................20 
7.5. 
Criteria for Study Termination ...................................................................................20 
7.6. 
Enrollment Frequency ................................................................................................21 
8. 
SELECTION AND WITHDRAWAL OF SUBJECTS ..............................................22 
8.1. 
Subject Inclusion Criteria ...........................................................................................22 
8.2. 
Subject Exclusion Criteria ..........................................................................................22 
8.3. 
Subject Withdrawal Criteria .......................................................................................23 

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8.4. 
Subjects with Concomitant Illness ..............................................................................23 
9. 
TREATMENT OF SUBJECTS ..................................................................................24 
9.1. 
Description of Study Treatment ..................................................................................24 
9.1.1. 
Prophylactic Administration of Prednisolone/Prednisone ..........................................24 
9.1.2. 
Administration of Study Treatment ............................................................................25 
9.1.3. 
Monitoring Immediately Following Gene Transfer ...................................................26 
9.2. 
Concomitant Medications and Therapies ...................................................................26 
9.3. 
Treatment Compliance ................................................................................................26 
9.4. 
Randomization and Blinding ......................................................................................26 
9.5. 
Description of Study Visits .........................................................................................27 
9.5.1. 
Visit Schedule .............................................................................................................27 
9.5.2. 
Unscheduled Visits .....................................................................................................31 
9.5.3. 
Early Termination Visit ..............................................................................................31 
9.6. 
Long-term Monitoring Following Gene Transfer .......................................................31 
10. 
STUDY TREATMENT MATERIALS AND MANAGEMENT ..............................32 
10.1. 
Study Treatment ..........................................................................................................32 
10.2. 
Packaging and Labeling ..............................................................................................32 
10.3. 
Storage ........................................................................................................................32 
10.4. 
Preparation ..................................................................................................................32 
10.5. 
Administration ............................................................................................................32 
10.6. 
Accountability .............................................................................................................32 
10.7. 
Handling and Disposal ................................................................................................33 
11. 
ASSESSMENT OF EFFICACY ................................................................................34 
11.1. 
Hamburg Scale ............................................................................................................34 
11.2. 
Unified Batten Disease Rating Scale ..........................................................................34 
11.3. 
Interviews and Data Collection on Subject Status and Function ................................35 
11.4. 
Electroencephalograms ...............................................................................................35 
11.5. 
Neurological Examinations ........................................................................................35 
11.6. 
Cognitive and Language Evaluations .........................................................................35 
11.7. 
Ophthalmologic Examinations ...................................................................................36 
11.8. 
Pediatric Quality of Life Inventory .............................................................................36 
11.9. 
Examinations Performed Under Anesthesia ...............................................................37 
11.9.1. 
Brain Magnetic Resonance Imaging ...........................................................................37 

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11.9.2. 
Ocular Coherence Tomography ..................................................................................37 
12. 
ASSESSMENT OF SAFETY .....................................................................................39 
12.1. 
Safety Parameters .......................................................................................................39 
12.1.1. 
Demographics and Medical History ...........................................................................39 
12.1.2. 
Concomitant Medications, Non-drug Therapies, and Other Procedures or 
Accommodations ........................................................................................................39 
12.1.3. 
Physical Examinations, Including Weight, Height, and Vital Signs ..........................39 
12.1.3.1. 
Weight .........................................................................................................................40 
12.1.3.2. 
Height .........................................................................................................................40 
12.1.3.3. 
Vital Signs ..................................................................................................................40 
12.1.4. 
Electrocardiograms .....................................................................................................40 
12.1.5. 
Laboratory Assessments .............................................................................................40 
12.1.5.1. 
Clinical Safety Laboratory Assessments ....................................................................40 
12.1.5.2. 
Confirmatory Genotyping ...........................................................................................42 
12.1.5.3. 
Immunogenicity Assessments ....................................................................................42 
12.1.5.4. 
Viral Shedding ............................................................................................................42 
12.1.5.5. 
Samples for Reanalysis or Future Assessments ..........................................................43 
12.2. 
Adverse and Serious Adverse Events .........................................................................43 
12.2.1. 
Definition of Adverse Events .....................................................................................43 
12.2.1.1. 
Adverse Event .............................................................................................................43 
12.2.1.2. 
Serious Adverse Event ................................................................................................44 
12.2.1.3. 
Expected Events Related to Disease Progression .......................................................45 
12.2.1.4. 
Anticipated Adverse Events of Laboratory Findings Related to Intervention ...........46 
12.2.1.5. 
Dose-limiting Toxicity ................................................................................................46 
12.3. 
Relationship to Study Treatment ................................................................................46 
12.4. 
Recording Adverse Events .........................................................................................47 
12.4.1. 
Assessment of Adverse Event Intensity .....................................................................47 
12.4.2. 
Distinction Between Serious and Severe Adverse Events ..........................................48 
12.4.3. 
Changes in Laboratory Values, Blood Pressure, or Other Measures .........................48 
12.5. 
Reporting Adverse Events ..........................................................................................48 
12.5.1. 
Reporting of Adverse Events ......................................................................................48 
12.5.2. 
Reporting of Serious Adverse Events .........................................................................49 

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12.5.3. 
Additional Reporting Requirements for Suspected Unexpected Serious 
Adverse Reactions ......................................................................................................50 
12.6. 
Other Reporting Situations .........................................................................................50 
12.6.1. 
Reporting Information from Subject’s Primary Care Physician .................................50 
13. 
STATISTICS ..............................................................................................................51 
13.1. 
Endpoints ....................................................................................................................51 
13.1.1. 
Safety Endpoints .........................................................................................................51 
13.1.2. 
Efficacy Endpoints ......................................................................................................51 
13.2. 
Statistical Methods ......................................................................................................51 
13.2.1. 
General Considerations ...............................................................................................51 
13.2.1.1. 
Baseline Definition .....................................................................................................51 
13.2.1.2. 
Descriptive Statistics ..................................................................................................51 
13.2.1.3. 
Handling of Missing Data ...........................................................................................51 
13.2.2. 
Demographic and Baseline Characteristics ................................................................52 
13.2.3. 
Exposure .....................................................................................................................52 
13.2.4. 
Safety Analyses ..........................................................................................................52 
13.2.4.1. 
Adverse Events ...........................................................................................................52 
13.2.4.2. 
Clinical Safety Laboratory Data .................................................................................53 
13.2.4.3. 
Vital Signs ..................................................................................................................53 
13.2.4.4. 
Physical Examinations ................................................................................................53 
13.2.4.5. 
Electrocardiograms .....................................................................................................53 
13.2.4.6. 
Concomitant Medications and Non-drug Therapies ...................................................53 
13.2.4.7. 
Subgroup Analyses .....................................................................................................54 
13.2.5. 
Efficacy Analyses .......................................................................................................54 
14. 
DIRECT ACCESS TO SOURCE DATA/DOCUMENTS .........................................55 
14.1. 
Study Monitoring ........................................................................................................55 
14.2. 
Audits and Inspections ................................................................................................55 
14.3. 
Institutional Review Board .........................................................................................55 
14.4. 
Data Safety Monitoring Board ....................................................................................55 
14.4.1. 
Data Safety Monitoring Board Responsibilities .........................................................55 
14.4.2. 
Data Safety Monitoring Board Reporting and Meetings ............................................56 
14.4.3. 
Data Safety Monitoring Board Membership ..............................................................56 
15. 
QUALITY CONTROL AND QUALITY ASSURANCE .........................................58 

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16. 
ETHICS ......................................................................................................................59 
16.1. 
Ethics Review .............................................................................................................59 
16.2. 
Ongoing Information for Independent Ethics Committees .........................................59 
16.3. 
Ethical Conduct of the Study ......................................................................................59 
16.3.1. 
Study Protocol, Amendments, and Deviations ...........................................................60 
16.3.2. 
Delegation of Investigator Duties ...............................................................................60 
16.4. 
Written Informed Consent ..........................................................................................61 
16.5. 
Confidentiality ............................................................................................................62 
16.6. 
Reporting and Posting Requirements .........................................................................62 
16.7. 
Legal and Financial Aspects .......................................................................................62 
16.7.1. 
Liability and Insurance ...............................................................................................62 
16.7.2. 
Financial Disclosure ...................................................................................................62 
17. 
DATA HANDLING AND RECORDKEEPING .......................................................63 
17.1. 
Data Management .......................................................................................................63 
17.2. 
Inspection of Records .................................................................................................63 
17.3. 
Retention of Records ..................................................................................................63 
17.4. 
Study and Site Closure ................................................................................................65 
18. 
PUBLICATION POLICY ..........................................................................................66 
19. 
LIST OF REFERENCES ............................................................................................67 
 
LIST OF TABLES 
Table 1: 
Contact Information for Serious Adverse Event Reporting .........................................4 
Table 2: 
Abbreviations and Specialist Terms ...........................................................................13 
Table 3: 
Schedule of Assessments ............................................................................................28 
Table 4: 
Clinical Safety Laboratory Parameters .......................................................................41 
 

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4. 
LIST OF ABBREVIATIONS AND DEFINITIONS OF TERMS 
The following abbreviations and specialist terms are used in the body of this study protocol. 
Abbreviations used in tables are defined in their respective footnotes. 
Table 2: 
Abbreviations and Specialist Terms 
Abbreviation or Specialist Term 
Definition 
AAV9 
adeno-associated virus, serotype 9 
AE 
adverse event 
ALT 
alanine aminotransferase 
AST 
aspartate aminotransferase 
AT-GTX-501 
a gene transfer product containing the human CLN6 gene 
CFR 
Code of Federal Regulations 
CLN6 
the human and nonhuman primate gene associated with 
vLINCL6 disease and other Batten disease variants, such as 
adult onset Kufs Type A disease (in mice and other animal 
models: Cln6) 
Cln6nclf 
a mouse model of CLN6 Batten disease  
CLN6 protein 
the protein product of the CLN6 gene, ceroid lipofuscinosis 
neuronal protein 6  
COVID-19 
coronavirus disease 2019 
CNS 
central nervous system 
CRF 
case report form 
CSF 
cerebrospinal fluid 
CTCAE 
Common Terminology Criteria for Adverse Events 
DLT 
dose-limiting toxicity 
DSMB 
Data Safety Monitoring Board 
ECG 
electrocardiogram 
eCRF 
electronic case report form 
EEG 
electroencephalogram 
ELISA 
enzyme-linked immunosorbent assay 
ELISpot 
enzyme-linked immunospot (assay) 
EUA 
examination under anesthesia 
FDA 
US Food and Drug Administration 
GCP 
Good Clinical Practice 
GGT 
gamma-glutamyl transferase 

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Table 2: 
Abbreviations and Specialist Terms (Continued) 
Abbreviation or Specialist Term 
Definition 
ICF 
informed consent form 
ICH 
International Conference on Harmonization 
ICV 
intracerebroventricular 
IFN-γ 
interferon gamma 
IRB 
Institutional Review Board 
MRI 
magnetic resonance imaging 
NCH 
Nationwide Children’s Hospital 
NCL 
neuronal ceroid lipofuscinosis 
NHP 
nonhuman primate 
OCT 
ocular coherence tomography 
PCR 
polymerase chain reaction (when quantitative: qPCR) 
PCS 
potentially clinically significant 
PedsQL 
Pediatric Quality of Life™ (inventory) 
PICU 
pediatric intensive care unit 
SAE 
serious adverse event 
SAP 
statistical analysis plan 
sc 
self-complementary 
scAAV9.CB.CLN6 
a gene transfer product containing the human CLN6 gene 
Note: Amicus code for this product is ‘AT-GTX-501.’  
SOC 
system organ class 
SUSAR 
suspected unexpected serious adverse reaction 
TEAE 
treatment-emergent adverse event 
UBDRS 
Unified Batten Disease Rating Scale 
vg 
vector genomes 
vLINCL6 disease 
variant late infantile neuronal ceroid lipofuscinosis associated 
with mutation(s) in the CLN6 gene 

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5. 
INTRODUCTION 
5.1. 
Background 
Batten diseases represent a group of heterogeneous, lysosomal disorders characterized by 
pathological intracellular accumulation of ceroid lipofuscin in neurons and other cell types. 
Collectively, although the disorder is most commonly known as Batten disease, it is also referred 
to as neuronal ceroid lipofuscinosis (NCL). The disorder is classified based on the genetic 
mutation. There are 14 different phenotypes with 13 causative genes identified (Schulz, 
Kohlschutter et al. 2013; Mole, Anderson et al. 2019). Of the recognized genes in which 
mutations may cause a Batten disease phenotype, CLN6 gene mutations have been associated 
with both childhood (late infantile) and later-onset phenotypes.  
In general, Batten diseases as a group are progressive degenerative diseases that primarily affect 
the brain and the retina. Clinically, individuals with variant late infantile neuronal ceroid 
lipofuscinosis associated with mutation(s) in the CLN6 gene (vLINCL6 disease) typically present 
with their first signs or symptoms before 5 years of age. These may include language delay, 
cognitive regression, ataxia, and pyramidal and extrapyramidal signs. Subjects with vLINCL6 
disease experience a decline in visual perception early in the progression of the disease. Most 
children lose ambulation within 4 years from disease onset (Canafoglia, Gilioli et al. 2015). A 
report by Sharp and colleagues describes language delay by 2 to 3 years of age, and seizures, 
ataxia and myoclonus, and visual failure at 5 to 6 years of age (Sharp, Wheeler et al. 2003). 
Therefore, the clinical presentation of the disease can be variable. Death usually occurs between 
5 and 12 years of age but may occur later. Sometimes, cases can be protracted and may present at 
a later age, perhaps referred to as the ‘adult variant’ or Kufs Type A (Arsov, Smith et al. 2011). 
All Batten diseases, regardless of the causative gene, result in loss of cognitive skills at some 
stage of the disease.  
Mutations in the CLN6 gene cause vLINCL6 disease; the CLN6 gene encodes ceroid 
lipofuscinosis neuronal protein 6 (CLN6 protein). The CLN6 protein is a transmembrane protein 
in the endoplasmic reticulum (Gao, Boustany et al. 2002). When the CLN6 protein is absent or 
mutated, lysosomal function is altered. This results in abnormal accumulation of ceroid 
lipofuscin, which would normally be degraded in the lysosome. In the central nervous system 
(CNS), intracellular accumulation of these materials results in early destruction of neural cells 
(Kurze, Galliciotti et al. 2010).  
Currently, there is no cure or treatment for vLINCL6 disease other than symptomatic and 
supportive care. Therefore, a clinical study of AT-GTX-501, a gene transfer product containing 
the human CLN6 gene, will provide information on the potential of gene transfer in treating 
patients with vLINCL6 disease.  
5.2. 
Study Treatment 
Subjects in this study will receive AT-GTX-501, further described as a self-complementary 
adeno-associated viral vector, serotype 9 (scAAV9) containing the human CLN6 gene under the 
control of a hybrid promoter (a cytomegalovirus enhancer fused to the chicken-β actin promoter).  

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5.3. 
Study Rationale 
5.3.1. 
Overview of Study Design 
This clinical study is an open-label, single dose study in which the study treatment, 
AT-GTX-501, will be delivered by a single intrathecal injection into the lumbar spinal cord 
region of young pediatric subjects with vLINCL6 disease. The rationale for the dose and route of 
administration are described in Section 5.3.3. The study design is further described in 
Section 7.1. 
5.3.2. 
Rationale for Study Treatment 
This is the first clinical study of AT-GTX-501. The target for this gene transfer study is 
vLINCL6 disease. The CLN6 gene will be transferred using scAAV9 carrying the human CLN6 
gene under control of a hybrid cytomegalovirus enhancer/chicken-β-actin promoter 
(AT-GTX-501). The specific scAAV9 viral vector was chosen based on both nonclinical studies 
and its safety in human subjects as seen in a Phase I clinical study for infants with type I spinal 
muscular atrophy (Mendell, Al-Zaidy et al. 2017).  
The rationale for this approach is based on studies of the natural history of vLINCL6 disease, its 
genetic cause, and its lack of therapies.  
Pathogenic mutations in the CLN6 gene cause vLINCL6 disease, which is a severe 
neurodegenerative disorder leading to dementia, epilepsy, motor impairment, and visual loss. 
The age of disease onset varies between 18 months and 8 years, but the outcome is fatal in all 
cases, typically leading to death within the first 15 years of life. The CLN6 protein is a 
transmembrane protein located in the endoplasmic reticulum (Gao, Boustany et al. 2002). As 
with many other Batten disease-causing gene products, the exact function of the CLN6 protein is 
still unknown. This makes it difficult to develop effective drug-based therapies for this 
devastating disorder, as the affected pathways that need to be targeted are poorly understood. 
Moreover, the ubiquitous expression of the CLN6 protein and the sensitivity of various neuronal 
cell types to its malfunction requires widespread targeting of treatment throughout the CNS and 
potentially other organs of the body. The pathogenic CLN6 mutations described to date are 
thought to cause a reduced abundance or functionality of the protein (Heine, Koch et al. 2004). 
Therefore, strategies aiming to restore CLN6 protein expression and/or function are under 
investigation as therapeutic approaches. Current treatments are only palliative in nature and no 
therapies exist to treat the underlying cause of vLINCL6 disease. 
Preceding nonclinical and clinical safety studies have shown scAAV9-mediated gene transfer to 
be safe and well-tolerated in mice, cats, monkeys, and in human subjects in clinical studies 
(Foust, Salazar et al. 2013; Bucher, Dubreil et al. 2014; Meyer, Ferraiuolo et al. 2015; Mendell, 
Al-Zaidy et al. 2017).  
5.3.3. 
Rationale for Dose and Route of Administration 
The clinical dose of 6 x 1013 vector genomes (vg), based on polymerase chain reaction (PCR) 
and relative to a supercoiled standard, is based on a cerebrospinal fluid (CSF)-volume based 
increase to the dose in young cynomolgus macaques that achieved efficient brain and spinal cord 
transduction via CSF delivery at a lower dose of viral vector (2 x 1013 vg). The dose of 

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6 x 1013 vg is based on the maximal increase of CSF volume of 2- to 3-fold from young to adult 
cynomolgus macaques.  
The delivery route is based on the transduction pattern observed in nonclinical studies, in which 
intrathecal administration followed by short-term (10 to 15 minutes) placement of the subject in 
the Trendelenberg position resulted in the most efficient targeting throughout all brain regions. 
The delivery of AT-GTX-501 directly into the CSF also allows for reduction of the amount of 
the scAAV9 vector by a factor of 10 (relative to peripheral administration), while also achieving 
equal distribution and efficacy throughout the CNS. The delivery into the CSF also results in 
reduced scAAV9 vector loads in major peripheral organs, such as the liver, thereby further 
optimizing the safety profile of AT-GTX-501. 
5.4. 
Summary of Key Nonclinical Results 
The below nonclinical results are especially pertinent to the clinical development program for 
AT-GTX-501 for the treatment of vLINCL6 disease: 
• Initial nonclinical evaluations of the safety of delivering a CLN6 transgene were 
performed in a toxicology study using AT-GTX-501 in mice that received an 
intracerebroventricular (ICV) injection at a dose of 3.3 × 1013 vg/kg. This dose 
allowed efficient targeting of the brain and spinal cord. Doses that led to similar 
targeting of the brain and spinal cord were then used in nonhuman primates (NHPs). 
These nonclinical studies were the foundation for the dose selection in this Phase I/IIa 
treatment study. 
• Initial evaluations of efficacy for AT-GTX-501 were performed using the mouse 
model of CLN6 Batten disease (Cln6nclf). A single AT-GTX-501 ICV injection (dose 
of 3.3 × 1013 vg/kg) was sufficient to induce widespread expression of human CLN6 
protein throughout the CNS of Cln6nclf mice. Untreated Cln6nclf mice show a hallmark 
of CLN6 Batten disease, accumulation of ceroid lipofuscins throughout the cerebral 
cortex. However, at 1 month of age, Cln6nclf mice that were injected with 
AT-GTX-501 at postnatal day 2 did not show this abnormal accumulation of ceroid 
lipofuscin (referred to as autofluorescent storage material [ASM]) and ASM levels 
were comparable to those seen in wild-type mice. Furthermore, a behavioral test 
(rotorod motor performance assay) in these mice showed that AT-GTX-501-injected 
Cln6nclf mice performed significantly better than vehicle-injected Cln6nclf mice. 
• Studies in young NHPs (cynomolgus macaques) demonstrated efficient brain and 
spinal cord transduction, achieved via CSF delivery at a lower dose (2 × 1013 vg) than 
the 3.3 × 1013 vg that was required for mice. Subsequently, accounting for increased 
CSF volume with increased age, studies in older NHPs identified an adjusted dose of 
6 × 1013 vg for the maximal 3-fold increase in CSF volume. Injection of 
AT-GTX-501 in older NHPs did not induce major changes in serum chemistry or 
hematology up to 2 months after injection, and no organ pathology was found after 
euthanasia. 
• Overall, there were no significant findings or safety concerns raised in the nonclinical 
studies at doses resulting in widespread and efficient brain and spinal cord 
transduction (mice and NHPs). 

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• Safety of administering an scAAV9 vector to humans is also inferred from a spinal 
muscular atrophy gene transfer study (Mendell, Al-Zaidy et al. 2017) in which the 
only adverse events (AEs) observed and considered related to treatment were 
transient and asymptomatic elevations in aminotransferase levels. 
5.5. 
Study Population 
This study will include approximately 13 subjects with vLINCL6 disease. All subjects are 
required to have a documented mutation in the CLN6 gene.  
At the time of entry into Study AT-GTX-501-01, subjects are required to have a minimum 
baseline motor-language aggregate score on the Hamburg scale (see Section 11.1) of ≥ 3. Also, 
subjects are required to meet an age requirement of being ≥ 1 year of age.  
Eligible subjects need to meet other exclusionary requirements, such as lack of certain 
concomitant diseases or illnesses, no previous receipt of certain investigational or other 
treatments, and lack of contraindications for procedures specified by this protocol.  

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6. 
OBJECTIVES AND PURPOSE  
This study is a Phase I/IIa clinical study, inclusive of safety and efficacy. 
6.1. 
Primary Objective 
The primary outcome for this clinical study is safety. This is evaluated based on an outcome 
measure of dose-limiting toxicity (DLT), defined in Section 12.2.1.5 as any unanticipated AE 
that is related to AT-GTX-501 (events assessed by the investigator as definitely, probably, or 
possibly related) and is Grade 3 or higher, according to the Common Terminology Criteria for 
Adverse Events (CTCAE) version 4.0 (published 28 May 2009). 
6.2. 
Secondary Objectives 
The secondary and exploratory outcome measures are to evaluate the potential for prolonged 
survival or maintenance of motor, language, visual, and cognitive function. The outcome 
measures include the Hamburg (scale), the Unified Batten Disease Rating Scale (UBDRS), brain 
magnetic resonance imaging (MRI), cognitive and language evaluations, the Pediatric Quality of 
Life™ (PedsQL) inventory, ophthalmologic examinations, and long-term monitoring 
electroencephalograms. The primary efficacy outcome will be the Hamburg Motor and Language 
scores.  

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7. 
INVESTIGATIONAL PLAN 
7.1. 
Overall Study Design  
This is a study in subjects with vLINCL6 disease who receive a single intrathecal administration 
of AT-GTX-501. 
Safety and efficacy are evaluated over a 2-year period. The efficacy assessments in this study are 
to evaluate motor, language, visual, and cognitive function, as well as survival and other 
outcome measures. In Year 1, subjects are tested at baseline, receive AT-GTX-501 on Day 0, 
and return for visits on Days 7, 14, 21, and 30 (Visits 3 to 6), and then every 3 months for 
Visits 7 (Month 3) to 10 (Month 12). In Year 2, data are collected every 3 months.  
During the conduct of the study, the COVID-19 pandemic emerged and impeded the conduct of 
site visits and laboratory testing due to quarantines, travel restrictions, and risk of infection. 
Therefore, remote subject visits were implemented per health authority guidance. The overall 
study design and timing of assessments is unchanged during the period of time in which the 
investigator will perform remote assessments. The Schedule of Assessments, Table 3 in 
Section 9.5, Description of Study Visits, continues to show the target timing and interval for data 
collection. Further details on the performance of remote visits are contained in the Remote 
Patient Visit Plan. These contingency measures are planned to be followed until resolution of 
COVID-19 related issues specific to the individual subject. Any assessment that cannot be 
performed will be a protocol deviation and recorded in the electronic case report form (eCRF) 
with the reason for protocol deviation as “COVID-19.” 
Following the current study, there is a long-term follow-up study in which data will continue to 
be collected (Study AT-GTX-501-02, see Section 9.6). 
7.2. 
Number of Subjects 
Approximately 13 subjects will be enrolled into this study. 
7.3. 
Treatment Assignment 
This is an open-label study and all subjects receive the same treatment. 
7.4. 
Dose Adjustment Criteria 
There are no dose adjustment criteria for this study. This is a one-time (single dose) treatment 
and dose adjustment is not applicable. 
7.5. 
Criteria for Study Termination 
Although there are no pre-defined stopping criteria for this study, safety data will be monitored 
throughout the study. An independent Data Safety Monitoring Board (DSMB [see Section 14.4]) 
can recommend pausing enrollment for reasons of safety. Study enrollment will be paused when 
2 or more subjects experience a Grade 3 DLT (as defined in Section 12.2.1.5), if any subject 
experiences a Grade 4 DLT, or if any subject experiences any of the following: 
• Death of any subject, irrespective of relation to AT-GTX-501 

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• Rapid neurological deterioration (outside of the anticipated decline that occurs with 
this disease); this may include, but is not limited to, paralysis, refractory seizures, or 
stroke 
• Widespread inflammatory response with imaging or safety blood laboratory results 
that are not reversible and that correlate with a change in neurologic function or 
clinical status 
The events will be reviewed by the DSMB, which will evaluate if the board recommends that the 
study be terminated early. If the decision is made to continue, the study will proceed according to 
Section 7.6. 
Further, Amicus may terminate this study at any time after informing the investigator and 
relevant regulatory agencies. The US Food and Drug Administration (FDA) or other regulatory 
authorities may also instruct or recommend discontinuation or alteration of the study. Amicus 
will notify the investigator if the study is to be placed on hold, completed, or terminated. 
7.6. 
Enrollment Frequency 
For the initial 12 subjects, there was at least a 3-week interval between dosing of subjects to 
allow review of the safety data from 5 time points (Days 1, 2, 7, 14, and 21) prior to dosing of 
the next subject. Safety analyses were done by the investigator and the DSMB, as appropriate per 
Section 14.4, in time for decisions to be made about whether to continue enrollment.  
Beyond the first 12 subjects, the DSMB will conduct routine meetings as per their charter 
(further described in Section 14.4). 

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8. 
SELECTION AND WITHDRAWAL OF SUBJECTS 
Subjects must meet all of the inclusion criteria and none of the exclusion criteria.  
8.1. 
Subject Inclusion Criteria 
1. Diagnosis of vLINCL6 disease determined by genotype available at screening (by a 
College of American Pathologists/Clinical Laboratory Improvement Amendments 
[CAP/CLIA]-certified laboratory [or a non-US laboratory with an equivalent national 
accreditation/certification]) 
2. A score of ≥ 3 on the quantitative clinical assessment of the Hamburg motor-language 
aggregate score at screening 
3. Aged ≥ 1 year 
4. Ambulatory or able to walk with assistance 
8.2. 
Subject Exclusion Criteria 
1. Presence of another inherited neurologic disease, eg, other forms of Batten disease (also 
known as NCL) or seizures unrelated to vLINCL6 disease (Subjects with febrile seizures 
may be eligible at discretion of the investigator.) 
2. Presence of another neurological illness that may have caused cognitive decline 
(eg, trauma, meningitis, hemorrhage) before screening 
3. Active viral infection (includes HIV or serology positive for hepatitis B or C) 
4. Has received stem cell or bone marrow transplantation for vLINCL6 disease 
5. Contraindications for intrathecal administration of the product or lumbar puncture, such 
as bleeding disorders or other medical conditions (eg, spina bifida, meningitis, or clotting 
abnormalities)  
6. Contraindications for magnetic resonance imaging (MRI) scans (eg, cardiac pacemaker, 
metal fragment or chip in the eye, aneurysm clip in the brain) 
7. Episode of generalized motor status epilepticus within 4 weeks before the gene transfer 
visit (Visit 2) 
8. Severe infection (eg, pneumonia, pyelonephritis, or meningitis) within 4 weeks before the 
gene transfer visit (Visit 2) (Enrollment may be postponed.) 
9. Has received any investigational medication within 30 days before the gene transfer visit 
(Visit 2)  
10. Anti-AAV9 antibody titers > 1:50 as determined by ELISA (enzyme-linked 
immunosorbent assay) 
11. Has a medical condition or extenuating circumstance that, in the opinion of the 
investigator, might compromise the subject’s ability to comply with the protocol-required 
testing or procedures or compromise the subject’s wellbeing, safety, or clinical 
interpretability 

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12. Pregnancy any time during the study (Any female subject judged by the investigator to be 
of childbearing potential will be tested for pregnancy.) 
13. Abnormal laboratory values from screening considered clinically significant 
(gamma-glutamyl transferase [GGT] > 3 times the upper limit of normal, bilirubin 
≥ 3.0 mg/dL, creatinine ≥ 1.8 mg/dL, hemoglobin < 8 or > 18 g/dL, white blood 
cells > 15,000 per cmm) 
14. Family does not want to disclose subject’s study participation with primary care 
physician and other medical providers. 
15. History of or current chemotherapy, radiotherapy, or other immunosuppression therapy 
within the 30 days preceding screening (Corticosteroid treatment may be permitted at the 
discretion of the investigator.)  
16. Has 2 consecutive abnormal liver tests at screening (> 2 times the upper limit of normal). 
Liver enzymes will be re-tested once if abnormal upon initial screening. 
8.3. 
Subject Withdrawal Criteria 
There are no subject withdrawal criteria for this study. 
8.4. 
Subjects with Concomitant Illness 
At Visit 1, any illnesses present are to be captured as AEs and documented in the appropriate 
electronic case report form (eCRF). Any emergence or worsening of a concomitant illness during 
the study will be regarded as a treatment-emergent adverse event (TEAE) and will be reported in 
the AE eCRF. 

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9. 
TREATMENT OF SUBJECTS 
9.1. 
Description of Study Treatment 
Gene transfer via AT-GTX-501 includes 3 key phases: the prophylactic administration of 
prednisolone/prednisone (Section 9.1.1), the administration of AT-GTX-501 (Section 9.1.2), and 
then monitoring in the pediatric intensive care unit (PICU) immediately post-gene transfer 
(Section 9.1.3). 
9.1.1. 
Prophylactic Administration of Prednisolone/Prednisone 
Subjects will be started on an oral dose of prophylactic prednisolone/prednisone (glucocorticoid) 
1 day prior to gene transfer via AT-GTX-501. In most cases this will be prednisolone, 
1 mg/kg/day with a maximum dose of 60 mg/day. Prednisone at the same dose is acceptable as 
well as a comparable glucocorticoid administered intravenously if it were to be required. The 
glucocorticoid is intended to serve as an immunosuppressive to dampen host immune response to 
AAV or transgene, which is an expected reaction following gene transfer. 
Oral prednisone or prednisolone administration will continue after the gene transfer itself and 
will be tapered according to results from measuring AST, ALT, GGT, and bilirubin (total and 
fractionated [direct and indirect]) to assess liver function and from interferon gamma (IFN-γ) 
T-cell studies (enzyme-linked immunospot [ELISpot] assays) to assess immune response to 
AAV9 and CLN6 peptides in the following weeks.  
• Post-gene transfer, at some time after Day 30, the subject’s prednisone or 
prednisolone dose may begin to be tapered if (1) AST, ALT, GGT, and bilirubin 
results while on-steroid are not considered clinically significantly abnormal by the 
investigator, and if (2) ELISpot responses to both AAV9 and CLN6 peptides are 
negative or mildly positive per laboratory criteria. Tapering will proceed slowly, 
typically over 4 to 7 weeks.  
− Depending on the discretion of the investigator, the steroid dose may instead be 
increased (eg, to approximately 2 mg/kg/day). Accordingly, the subsequent 
tapering protocol would be prolonged; however, the guidelines for tapering as 
described above will be followed.  
• At any point, if either the AST or ALT exceed > 2.5X the subject’s Visit 1 
(screening/baseline) values, and results are confirmed on a follow-up blood test 
within 3 days, the prednisone or prednisolone regimen will be maintained or 
increased (at the investigator’s discretion) until the enzyme levels fall below the 2.5X 
elevation.  
Based upon other studies, it is anticipated that oral prednisone or prednisolone administration 
will not exceed 120 days post gene transfer; regardless, testing of AST, ALT, GGT, and bilirubin 
is included at every site visit (at Days 7, 14, 21, and 30, at Months 3, 6, 9, and 12, and then every 
6 months through Month 24). Additional assessments of AST, ALT, GGT, and bilirubin will be 
performed as needed; at a minimum these parameters will be measured and evaluated 1 to 
2 weeks before initiating the planned final dose of steroid (ie, when tapering is almost complete) 
and 2 weeks after the final dose of steroid. During the period of COVID-19 contingency 

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measures, the sample collection and measurement of AST, ALT, GGT, and bilirubin may be 
performed locally rather than at the study site (see Remote Patient Visit Plan).  
9.1.2. 
Administration of Study Treatment  
The gene transfer infusion procedure will be done in the interventional radiology suite, under 
sterile conditions.  
Prior to delivery of AT-GTX-501 the subject will be anesthetized by an experienced 
anesthesiologist. The choice of agents for anesthesia will be guided by the experience of the 
anesthesiologist, with careful monitoring during the procedure. Vital signs will be monitored 
throughout the procedure, including pulse oximetry, heart rate, blood pressure, temperature, and 
respiration rate. Information on concomitant medications, vital signs, and, if any occur, AEs will 
be recorded to be reported on the appropriate eCRF. 
Preparation of AT-GTX-501 for administration: 
• AT-GTX-501 is formulated in the Nationwide Children’s Hospital (NCH) 
Investigational Pharmacy in 2.5 mL of Omnipaque™ (for further detail, see 
Section 10.4) 
• AT-GTX-501, as prepared for administration with Omnipaque, is delivered to the 
procedure room in pre-labeled syringes sealed in double-sealed leak-proof bags and 
carried in a designated lockable cooler 
Administration of AT-GTX-501: 
• The subject will be placed in the lateral decubitus position 
• Photograph(s) of the planned infusion site(s) are taken  
• Under fluoroscopy guidance, an interventional radiologist will insert a lumbar 
puncture needle with stylet (a 22 GA Becton Dickinson™ [BD] spinal needle) into the 
L3-L4 or L4-L5 interspinous space, and then continue into the subarachnoid space  
− Subarachnoid cannulation will be confirmed with the flow of clear CSF from the 
catheter  
• Prior to administration of AT-GTX-501, 5 mL of CSF will be removed for future 
analysis of such things as protein, glucose, cell count, and differential 
• AT-GTX-501, as prepared for administration, will be injected directly into the 
subarachnoid space over 3 to 5 minutes  
− AT-GTX-501 will be administered to the subject within 8 hours of preparation 
− All subjects will receive via a 10 mL BD syringe (Luer-Lok™ Tip) a single dose 
of 1.5 x 1013 vg AT-GTX-501. This will be administered premixed with 2.5 mL 
of the contrast agent Omnipaque at a concentration of 180 mgI/mL of the contrast 
• Following injection, subject will be placed in the Trendelenburg position, with their 
body tilted head-down for approximately 15 minutes 

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− Use of the Trendelenburg position for approximately 15 minutes is used to 
promote distribution of the vector to areas of the upper spinal cord and brain 
(Meyer, Ferraiuolo et al. 2015) 
• Photograph(s) of the infusion site are taken 
9.1.3. 
Monitoring Immediately Following Gene Transfer  
Each subject will be returned to their designated PICU bed following gene transfer. As done 
during the gene transfer procedure, information on concomitant medications, vital signs, and 
AEs will be recorded to be reported in the appropriate eCRF. 
Each subject will be kept in the PICU for approximately 48 hours. During their admission to the 
PICU, the following procedures will be followed: 
• Continued close monitoring of vital signs, with vital signs monitored every 
15 minutes for 4 hours and every hour for the first 24 hours  
• Continued monitoring and documentation of concomitant medications and all 
AEs/SAEs, including close monitoring of mental status 
Subjects will be discharged based on the judgment of the investigator, including consideration of 
the following 4 criteria:  
1. Afebrile  
2. Absence of hypersensitivity reactions 
3. Absence of meningismus, vomiting, or headache 
4. Absence of clinically significant abnormal laboratory values 
Before discharge, subjects’ parents/caregivers will be provided standardized handouts that have 
been approved by the hospital with regard to monitoring for mental status changes. 
9.2. 
Concomitant Medications and Therapies 
There are no restrictions on concomitant medications during this study. 
There are neither restrictions nor prescriptions for any non-drug therapies (eg, physical, 
occupational) or other procedures or accommodations (eg, wheelchair use) during the study. Site 
and primary care providers are to use best practices in providing support for subjects 
participating in the study.  
See Section 12.1.2 for instructions on recording of concomitant medications, as well as non-drug 
therapies, other procedures, or accommodations. 
9.3. 
Treatment Compliance 
In this study a single intrathecal administration of study drug is performed; monitoring of 
treatment compliance is not applicable.  
9.4. 
Randomization and Blinding 
Not applicable. This is an open-label study.  

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9.5. 
Description of Study Visits 
9.5.1. 
Visit Schedule 
Before completion of any study-specific procedures, a written informed consent will be obtained 
(Section 16.4). All study assessments/procedures are to be conducted by the investigator and/or a 
suitably qualified delegate. 
As shown in the Schedule of Assessments (Table 3), following Visit 1, all visits are to occur 
within a window of ± 2 days for Visits 3 through 6 and ± 30 days for Visits 7 through 14. 
Each site visit will span at least 2 days and is expected to require an overnight stay, thus also 
necessitating completion of hospital registration procedures for each visit. The order of 
performance of assessments is at the discretion of the investigator, who will consider assessment 
timing to ensure that fatigue from previous assessments would not be expected to impact the 
outcome of the assessment (particularly following any examinations under anesthesia [EUAs], as 
described in Section 11.9). From visit to visit, attempts will be made to perform relevant 
assessments in the same general order and by the same rater. 
Remote subject visits will occur until resolution of COVID-19 related issues specific to the 
individual subject (see Remote Patient Visit Plan).

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Table 3: 
Schedule of Assessments 
vLINCL6 disease 
Study Procedures 
Screening 
Gene Transfer (Visit 2) 
Visit 3 Visit 4 Visit 5 Visit 6 Visit 7 Visit 8a Visit 9a Visit 10a Visit 11a Visit 12a Visit 13a Visit 14a 
Day -30 
to -2 
Day 
-1 
Day 
0 
Day 
1 
Day 
2 
Day  
7 
Day 
14 
Day 
21 
Day 
30 
Mont
h 3 
Month 
6 
Month 
9 
Month 
12 
Month 
15 
Month 
18 
Month 
21 
Month 
24 
Visit window 
 
 
 
 
 
±2d 
±2d  
±2d 
±2d 
±30d 
±30d 
±30d 
±30d 
±30d 
±30d 
±30d 
±30d 
Informed consent 
(Section 16.4) 
X 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Chest X-ray 
(Section 12.1.3) 
X 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Medical history 
(Section 12.1.1) 
X 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Interview for interim 
assessment of subject 
status and function 
(Section 11.3) 
 
 
 
 
 
 
 
 
 
 
 
 
 
X  
 
X  
 
Interview re: 
historical subject 
status and function 
(Section 11.3) 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
X 
PedsQL 
(Section 11.8) 
X 
 
 
 
 
 
 
 
 
 
 
 
X 
 
 
 
X 
Physical exam, 
including vitals 
(Section 12.1.3) 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
Neurological exam 
(Section 11.5) 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
Lumbar puncture 
(Section 9.1.2, 
Section 12.1.5.5) 
 
 
X 
 
 
 
 
 
 
 
 
 
 
 
 
 
X 
Gene transfer 
(Section 9.1.2) 
 
 
X 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Brain MRI, OCT, 
Fundus photography 
(Section 11.9) 
See Section 
X 
 
 
 
 
 
 
 
 
 
X 
 
 
 
X 

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Table 3: 
Schedule of Assessments (Continued) 
vLINCL6 disease 
Study Procedures 
Screening 
Gene Transfer (Visit 2) 
Visit 3 Visit 4 Visit 5 Visit 6 Visit 7 Visit 8a Visit 9a Visit 10a Visit 11a Visit 12a Visit 13a Visit 14a 
Day -30 
to -2 
Day 
-1 
Day 
0 
Day 
1 
Day 
2 
Day  
7 
Day 
14 
Day 
21 
Day 
30 
Mont
h 3 
Month 
6 
Month 
9 
Month 
12 
Month 
15 
Month 
18 
Month 
21 
Month 
24 
Visit window 
 
 
 
 
 
±2d 
±2d  
±2d 
±2d 
±30d 
±30d 
±30d 
±30d 
±30d 
±30d 
±30d 
±30d 
Infusion site 
photographs 
(Section 9.1.2, 
Section 12.1.3) 
X 
X 
X 
X 
X 
X 
X 
X 
X 
 
 
 
 
 
 
 
 
Hamburg with video 
and UBDRS 
(Section 11.1, 
Section 11.2) 
X 
 
 
 
 
 
 
 
X 
X 
X 
X 
X 
X 
X 
X 
X 
Long-term 
monitoring EEG 
(Section 11.4) 
X 
 
 
 
 
 
 
 
 
 
 
 
X 
 
 
 
X 
Ophthalmologic 
exams (Section 11.7) 
X 
 
 
 
 
 
 
 
X 
 
X 
 
X 
 
X 
 
X 
Cognitive and 
language evals 
(Section 11.6)  
X 
 
 
 
 
 
 
 
 
 
X 
 
X 
 
 
 
X 
Electrocardiogram 
(Section 12.1.4) 
X 
 
 
 
 
 
 
 
 
 
 
 
X 
 
 
 
X 
Safety labs (blood 
and urine) 
Section 12.1.5.1) 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
Additional 
assessments of AST, 
ALT, GGT, and 
Bilirubin 
(Section 12.1.5.1)  
 
 
As needed as per Section 9.1.1. At a minimum these will be measured and evaluated 1 to 2 weeks before initiating the final dose of 
steroid (during down-tapering) and 2 weeks after the last dose of steroid. If necessary, these may be performed locally. 
HIV and Hep B or C 
(Section 12.1.5.1) 
X 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

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Table 3: 
Schedule of Assessments (Continued) 
vLINCL6 disease 
Study Procedures 
Screening 
Gene Transfer (Visit 2) 
Visit 3 Visit 4 Visit 5 Visit 6 Visit 7 Visit 8a Visit 9a Visit 10a Visit 11a Visit 12a Visit 13a Visit 14a 
Day -30 
to -2 
Day 
-1 
Day 
0 
Day 
1 
Day 
2 
Day  
7 
Day 
14 
Day 
21 
Day 
30 
Mont
h 3 
Month 
6 
Month 
9 
Month 
12 
Month 
15 
Month 
18 
Month 
21 
Month 
24 
Visit window 
 
 
 
 
 
±2d 
±2d  
±2d 
±2d 
±30d 
±30d 
±30d 
±30d 
±30d 
±30d 
±30d 
±30d 
Immunology labs 
(Section 12.1.5.3)  
X 
 
 
 
 
X 
X 
X 
X 
X 
X 
X 
X 
 
X 
 
X 
Viral shedding 
samples 
(Section 12.1.5.4)  
X 
 
X 
X 
X 
X 
X 
X 
X 
X 
X 
X 
Adverse events (Section 12.2) 
Concomitant medications, non-drug therapies, and other procedures or accommodations (Section 12.1.2) 
Abbreviations: EEG = electroencephalogram; Hep B or C = Hepatitis B or C; HIV = human immunodeficiency virus; labs = laboratory assessments; 
MRI = magnetic resonance imaging; OCT = ocular coherence tomography; PedsQL = Pediatric Quality of Life (inventory); UBDRS = Unified Batten Disease 
Rating Scale  
a Remote visits are planned to be followed until resolution of COVID-19 related issues specific to the individual subject. As per the Remote Patient Visit Plan, 
AEs and concomitant medications review, physical and neurological examinations, PedsQL assessments, Hamburg scale assessment, and UBDRS assessment 
will be performed during remote visits. Subjects may have samples collected at a local laboratory for the clinical safety laboratory assessments. See Remote 
Patient Visit Plan for a detailed description of remote assessments.  

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9.5.2. 
Unscheduled Visits 
Unscheduled visits can be performed at any time at the investigator’s discretion. At the 
discretion of the investigator, any safety or efficacy assessment may be performed at an 
unscheduled visit. Information collected is to be captured in the subject’s source documents and 
on the appropriate eCRFs.  
9.5.3. 
Early Termination Visit 
All subjects will be encouraged to remain in the study until completion. However, any subject 
may withdraw consent and discontinue from the study at any time. In any such cases, the date of 
subject’s withdrawal and the primary reason for discontinuation are to be recorded in the source 
documents and in the eCRF. The investigator is to make every effort to contact subjects who are 
lost to follow-up and every effort to schedule, as appropriate, a site visit, a remote visit/phone 
interview (as per Section 11.3), or an early termination (ET) visit, regardless of the time period 
since any previous data collection. Attempts to contact subjects who are lost to follow-up 
(eg, times and dates of attempted telephone contact, documentation of a registered letter) are to 
be recorded in the subject’s source documents. 
Any discontinuing subject will be requested to complete an ET visit, as shown in the Schedule of 
Assessments (Table 3). 
9.6. 
Long-term Monitoring Following Gene Transfer  
As indicated by the draft US guidance (FDA 2018), adeno-associated viral vectors have a very 
low probability of gene transfer-related delayed AEs. Short-term safety will be evaluated over a 
2-year period that incorporates the active phase of the current protocol. Following the current 
study, subjects will be asked to transfer to a long-term follow-up study (Study AT-GTX-501-02) 
where follow-up data is planned to be collected for 13 years.  
At the time of death, no matter what the cause, permission for an autopsy will be requested of 
subject’s families. Subject’s parents will be asked to advise their families of this request and of 
its scientific and medical importance. 

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10. 
STUDY TREATMENT MATERIALS AND MANAGEMENT 
10.1. 
Study Treatment 
AT-GTX-501 is manufactured in the Clinical Manufacturing Facility at NCH.  
10.2. 
Packaging and Labeling 
Each container of AT-GTX-501 will be labeled in conformance with regulatory requirements 
and where applicable, local laws.  
10.3. 
Storage 
AT-GTX-501 is stored at ≤ -60°C, in an area with restricted access. AT-GTX-501 is to be stored 
only at the site(s) listed on FDA Form 1572. 
10.4. 
Preparation 
Preparation of AT-GTX-501 for administration will be done by the NCH research pharmacist 
according to the Manual of Operating Procedures. Immediately prior to the transportation to the 
clinical setting, appropriate pre-mixing of AT-GTX-501 with Omnipaque will be completed by 
the pharmacy. Documentation of the mixing will be completed by the pharmacy following 
standard pharmacy protocol. AT-GTX-501 will be mixed and manipulated in polypropylene 
syringes. 
Preparation of AT-GTX-501 will be performed aseptically in a Class II biological safety cabinet 
by pharmacy staff according to the Manual of Operating Procedures. AT-GTX-501, as prepared 
for administration, will be transferred from the pharmacy at room temperature to avoid the 
possibility of particle aggregation following product thaw. The AT-GTX-501-containing 
syringes will be delivered to the designated Interventional Radiology division at NCH. 
AT-GTX-501 will be delivered inside double-sealed leak-proof bags, carried in a designated 
lockable cooler at room temperature. AT-GTX-501 will be administered to the subject within 
24 hours of removal from the freezer. 
10.5. 
Administration 
Administration of AT-GTX-501 is described in Section 9.1.2.  
10.6. 
Accountability 
Accountability records for supplies of AT-GTX-501 are to be maintained throughout the course 
of the study. Upon withdrawal of a vial, the Investigational Product Accountability Log will be 
recorded with the specific lot number and code of the vial. The study monitor will periodically 
check the supplies of AT-GTX-501 and verify the drug accountability logs are completed and 
maintained in the investigator study file.  

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10.7. 
Handling and Disposal 
Handling of AT-GTX-501 will follow compliance standards for Biosafety Level 1 vectors 
following the NIH guidelines. Individuals manipulating AT-GTX-501 will be required to wear 
adequate personal protective equipment. 
The site may not destroy AT-GTX-501, including used/partial vials of pure AT-GTX-501 or 
AT-GTX-501 mixed for administration but not used, unless Amicus has provided prior written 
approval. 

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11. 
ASSESSMENT OF EFFICACY 
As appropriate, additional instruction regarding the performance of assessments will be provided 
in procedure manual(s). For consistency, efforts will be made to have each assessment for a 
particular subject performed by the same rater at all visits. 
As per the Remote Patient Visit Plan, AEs/SAEs and concomitant medications review, physical 
and neurological examinations, PedsQL assessments, Hamburg scale assessment, and UBDRS 
assessment will be performed during remote visits. Subjects may have samples collected at a 
local laboratory for the clinical safety laboratory assessments. 
11.1. 
Hamburg Scale 
The Hamburg scale will be assessed at visits for Day -30 to Day -2 (baseline/screening), Day 30, 
and for Months 3, 6, 9, 12, 15, 18, 21, and 24. For each subject, videotaping is included at each 
time point. During the period of time in which COVID-19 contingency measures are in place, the 
Hamburg scale will be assessed during the remote visit (see Remote Patient Visit Plan).  
The Hamburg scale was developed to document by rating motor, language, and visual functions 
in subjects with CLN2 Batten disease, and to collect their incidence of grand mal seizures 
(Steinfeld, Heim et al. 2002). The original Hamburg scale and modified versions of the motor 
and language domains of the Hamburg scale have been used to describe the natural history of 
CLN2 Batten disease (Nickel, Simonati et al. 2018) and to assess the effects of gene transfer 
(Worgall, Sondhi et al. 2008) and ICV enzyme replacement therapy for this disease (Schulz, 
Ajayi et al. 2018; Wyrwich, Schulz et al. 2018).  
Although the Hamburg rating scale was originally developed for CLN2 Batten disease (“classic” 
late infantile disease), vLINCL6 is a related late infantile disease. Both CLN2 and vLINCL6 
disease share a broadly similar clinical presentation that includes progressive decline in motor 
and cognitive abilities and seizures due to neuronal loss (Mole, Anderson et al. 2019), as well as 
vision loss and ataxia (Mink, Augustine et al. 2013). Previous authors have also described that 
patients with vLINCL6 disease may present with motor or language delay (with language delay 
by 2 to 3 years of age and seizures, ataxia/myoclonus, and visual failure at 5 to 6 years of age) 
and followed by death usually between 5 and 12 years of age (Sharp, Wheeler et al. 2003; 
Canafoglia, Gilioli et al. 2015). As such, the Hamburg scale is used to assess the effect of 
therapy in these subjects with vLINCL6 disease, and it or modified versions of the Hamburg 
scale are also being used to assess the natural rate of decline in untreated patients with vLINCL6 
disease (NCT03285425) (Schulz, Simonati et al. 2015). 
11.2. 
Unified Batten Disease Rating Scale 
The UBDRS will be assessed at visits for Day -30 to Day -2 (baseline/screening), Day 30, and 
for Months 3, 6, 9, 12, 15, 18, 21, and 24. The UBDRS will be assessed at remote visits during 
the period of time in which COVID-19 contingency measures are in place (see Remote Patient 
Visit Plan).  
The UBDRS was developed to monitor rate of progression in children with CLN3 Batten 
disease, also known as juvenile NCL (Marshall, de Blieck et al. 2005). Although the UBDRS 
scale was originally developed for CLN3 Batten disease, vLINCL6 disease has several similar 
clinical features. The version of the UBDRS used in this study collects data on the course of 

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extrapyramidal movement abnormalities and seizures. The scale also collects behavioral and 
capability assessments, as well as history relevant to vLINCL6 disease and scoring for global 
impression of symptom severity. 
11.3. 
Interviews and Data Collection on Subject Status and Function 
At up to 3 points during the study, interviews and data collection on subject status and function 
will be completed. 
• For subjects who complete remote rather than onsite visits for Months 15 and/or 
Month 21, via an interview the investigator will solicit information based on 
appearance or disappearance of developmental milestones, activities of daily life, 
and/or results of assessments performed by other health care providers (eg, a local 
neurologist). 
• At the Month 24 visit, an interview will be conducted for collection of the subject’s 
history in regard to vLINCL6 disease prior to the subject’s receipt of AT-GTX-501. 
Included will be a collection of the subject’s family medical history in regard to 
vLINCL6 disease. 
During these same conversations, safety-related information on AEs, concomitant medications, 
and non-drug therapies/procedures/accommodations will be solicited and recorded as appropriate 
(consistent with Section 12.1.2 and Section 12.4).  
11.4. 
Electroencephalograms 
A long-term (approximately 18 to 24 hours) monitoring electroencephalogram (EEG) will be 
performed at site visits on Day -30 to Day -2 (baseline/screening), Month 12, and Month 24. An 
EEG will not be performed during remote visits (see Remote Patient Visit Plan). 
Each EEG is planned to include a portion while the subject is awake and a portion while the 
subject is sleeping (typically necessitating an overnight clinic stay).  
These EEGs are to capture potential progression of encephalopathy, clinical seizures, and, if 
present, any epileptiform activity.  
11.5. 
Neurological Examinations 
A comprehensive neurological examination will be performed at all site visits. Refer to the 
Remote Patient Visit Plan for details of neurological examinations during remote visits. 
11.6. 
Cognitive and Language Evaluations 
Loss of cognitive and language function is a feature of vLINCL6 disease. Cognitive and 
language evaluations will be performed from Day -30 to Day -2 (baseline), and at Months 6, 12, 
and 24. Refer to the Remote Patient Visit Plan for details of cognitive and language evaluations 
during remote visits. 
The evaluations will include the following: 
• The Development Profile™-3 

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− A patient-reported outcome tool (or caregiver checklist) used to screen children 
(birth through < 13 years of age) for developmental delays in 5 areas (physical, 
adaptive behavior, social-emotional, cognitive, and communication) 
• The Mullen Scale of Early Learning 
− A scale designed to assess cognitive and motor ability in 5 areas (gross motor, 
visual reception, fine motor, expressive language, and receptive language) in 
infants and children (birth through 68 months of age [5 years, 8 months]) 
• Preschool Language Scales-5th Edition (PLS-5) (birth to 7 years, 11 months of age) 
OR, as appropriate for older children (5 years to 21 years, 11 months), the Clinical 
Evaluations of Language Fundamentals, 5th edition (CELF-5) 
− The PLS-5 is a comprehensive developmental language assessment with items 
that range from pre-verbal, interaction-based skills to emerging language to early 
literacy 
− The CELF-5 is a comprehensive battery of 16 stand-alone tests that provides a 
streamlined, flexible, and interactive approach to language assessment 
Note that completion of standard cognitive and language evaluations is expected to be impacted 
in those subjects with progressive visual loss, another common feature of the disease. Also, 
although these scales do state an upper age limit for use, it may be appropriate to administer 
certain tests to cognitively impaired children who are chronologically older than the stated upper 
age limit but are functioning at a level equivalent to that of a younger child. Subjects who cross 
over into another age group and with sufficient development, as per the judgment of the study 
neuropsychologist, will be tested using the next age/function appropriate test(s). Completion of 
the appropriate assessments for an individual subject (potentially including assessments not 
listed above) will be as per the judgment of the study neuropsychologist. 
11.7. 
Ophthalmologic Examinations 
Ophthalmologic examinations will be performed at site visits for Day -30 to Day -2 (baseline), 
Day 30, and for Months 6, 12, 18, and 24. Ophthalmologic examinations will not be performed 
during remote visits (see Remote Patient Visit Plan). 
These examinations will include visual acuity, refraction, confrontational visual field, external 
examination, ocular motility examination, pupil examination, intraocular pressure examination, 
slit lamp examination, and fundus examination, including fundus photographs as possible. 
For assessment of visual acuity, variable levels of subject visual, cognitive, and verbal abilities 
are accounted for by the potential assessment approaches (refer to the procedure manual).  
Additionally, special emphasis will be placed on monitoring changes in the retina, as described 
in Section 11.9.2.  
11.8. 
Pediatric Quality of Life Inventory 
The PedsQL inventory (both the family impact module and the parent report for children) will 
monitor the quality of life and will be performed at Visit 1 (Day -30 to Day -2; 

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baseline/screening) and at the visits for Months 12 and 24. Refer to the Remote Patient Visit Plan 
for details of the PedsQL assessment during remote visits. 
The PedsQL is a modular approach to measuring health-related quality of life in healthy children 
and adolescents and in those with acute and chronic health conditions. 
11.9. 
Examinations Performed Under Anesthesia 
Following the baseline evaluations, examinations under anesthesia will only be performed in 
those subjects for whom separate consent for anesthesia was provided. All EUA will be 
performed during a single session under anesthesia. For EUAs, the preferred order of these 
assessments is brain MRI and then OCT; the lack of collecting one or more EUA will not be 
considered a protocol deviation. The possible collection of CSF at Month 24 (Section 12.1.5.5), 
which would also occur under anesthesia, is to follow the EUAs described in this section.  
For both MRIs and OCTs and/or fundus photography, these will only be performed as possible 
and lack of anesthesia consent or incompletion of these assessments will not be considered a 
protocol deviation. If the OCT or fundus photography are able to be performed without 
anesthesia, they will be performed prior to Day 0 (at Visit 1) and the MRI will be the only 
assessment performed under anesthesia on Day 0 (at Visit 2, preceding the lumbar puncture to 
administer AT-GTX-501). 
As needed, on a subject-by-subject basis, these EUAs may be discontinued and removed from 
later evaluations should the subject show signs or have a history of (1) not easily tolerating the 
procedure, (2) having any untoward effects or vital sign abnormalities during anesthesia, or 
(3) having any difficulty recovering following anesthesia.  
During the period of time in which COVID-19 contingency measures are in place, remote visits 
will be conducted and examinations performed under anesthesia will not be performed. 
11.9.1. 
Brain Magnetic Resonance Imaging 
For those subjects who consented to anesthesia, brain MRI is to be performed at the visits for 
Day 0, Month 12, and Month 24. These MRIs will be utilizing a 3D MP-RAGE scan (a 
T1-weighted volumetric scan of the whole brain). In addition, a T2-weighted Gradient Echo and 
diffusion-weighted axial images will be recorded. These are to document progression of the 
disease, by using volumetric measures of the brain to capture the progression of atrophy. The 
MRIs will be discontinued from the study following a protocol amendment should 2 or more 
AEs occur related to the MRI procedure. 
11.9.2. 
Ocular Coherence Tomography 
When performed under anesthesia, OCT will be performed at the visits for Day 0 (Visit 2), 
Month 12, and Month 24. When possible, OCTs (and fundus photography) will be performed 
without anesthesia.  
An OCT is a non-invasive method for obtaining a cross-sectional image of the layers of the 
retina, which may document flatting of the retina. At the time of the study ophthalmologist’s 
evaluation of each OCT, a Weill Cornell score will be assigned. Retinal nerve fiber layer 
thickness and central foveal thickness will also be assessed via OCT results.  

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For those subjects for whom in-clinic fundus photography (refer to Section 11.7) was not 
completed, as possible, this will be completed at the time of OCT. Fundus photography is an 
imaging technique used to document changes in the retina and optic nerve. 

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12. 
ASSESSMENT OF SAFETY  
In addition to assessments of safety, this section includes descriptions of assessments or 
procedures to characterize the study population (eg, collection of demographic characteristics 
and medical history).  
12.1. 
Safety Parameters 
During the period of time in which COVID-19 contingency measures are in place, remote visits 
will include AE and concomitant medications review (Section 12.1.2), physical examinations 
(Section 12.1.3), and clinical laboratory safety assessments (Section 12.1.5). Refer to the Remote 
Patient Visit Plan for details of safety assessments during remote visits. 
12.1.1. 
Demographics and Medical History 
At Visit 1, demographic and medical history information will be collected. This information will 
be augmented by a detailed collection of subject history in regards to vLINCL6 disease and 
collection of family history of Batten disease, by or at the Month 3 visit as described in 
Section 11.3). The demographic information to be collected includes age (from date of birth), 
sex, race, and ethnicity. As part of the physical examination at Visit 1 (see Section 12.1.3), 
weight and height will be measured; from these, body mass index will be calculated, and 
baseline weight, height, and body mass index will be summarized as additional demographic 
characteristics. Additionally, information on the native language of the subject will be collected. 
12.1.2. 
Concomitant Medications, Non-drug Therapies, and Other Procedures or 
Accommodations 
At each visit, concomitant medications will be reviewed and recorded. For each subject, recorded 
information is to include any prescription and non-prescription medications, including reason or 
indication for taking the medication, dosage, frequency, route of administration, and start/stop 
dates. Changes in regimen or stopping of a concomitant medication, including reason for the 
change relative to preceding use in this study are also to be recorded. 
Also collected will be information on any non-drug therapies, other procedures (eg, physical or 
occupational therapy, surgeries), or accommodations (eg, wheelchair use). As with concomitant 
medications, changes in a non-drug therapy or use of accommodations, including the reason for 
the change relative to preceding use, will be recorded. 
12.1.3. 
Physical Examinations, Including Weight, Height, and Vital Signs 
A comprehensive physical examination will be performed at all annual visits and includes 
recording of weight (Section 12.1.3.1), height (Section 12.1.3.2), and vital signs 
(Section 12.1.3.3). Comprehensive physical examinations will include assessment of the head, 
eyes, ears, nose, throat, skin, thyroid, lungs, cardiovascular system, abdomen (liver and spleen), 
lymph nodes, and extremities. Neurological examinations, also performed at each site visit, are 
described in Section 11.5.  
In addition, a chest X-ray will be taken during the screening period. Also, photographs of the 
subject’s infusion site will be taken from Visit 1 (screening/baseline) through Visit 6 of the 

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study. Prior to administration of AT-GTX-501 on Day 0, multiple potential infusion sites may be 
photographed. 
12.1.3.1. Weight 
Weight is to be recorded without shoes. 
12.1.3.2. Height 
Height is to be recorded without shoes or hats. Height measurements are to be made using 
stadiometry, when the subject is able to undergo stadiometric measurement. 
12.1.3.3. Vital Signs 
Vital signs, including systolic and diastolic blood pressures (BPs), respiration rate (RR), pulse 
rate (PR), and body temperature will be measured at all site visits. Additionally at Visit 2, pulse 
oximetry, heart rate, and oxygenation are monitored during and after the gene transfer procedure 
(every 15 minutes ± 5 minutes for 4 hours then every hour ± 15 minutes for 20 hours). Typically, 
measurements are to be taken with the subject in a sitting or supine position after having rested 
for 5 minutes. The same position is to be used at all visits. Blood pressure is to be obtained using 
the same arm for each measurement. 
12.1.4. 
Electrocardiograms 
From Day -30 to Day -2 (baseline/screening) and Months 12 and 24, a standard 12-lead 
electrocardiogram (ECG) will be performed. The overall impression (eg, “normal sinus rhythm”) 
is to be captured in the ECG eCRF. 
Subjects are to rest for approximately 5 minutes before the ECG recording begins and will be in 
the supine position throughout the ECG evaluation. Parameters expected to be recorded include 
QT interval, corrected QT interval, QRS interval, PR interval, and heart rate. 
The investigator or a suitably qualified delegate will review ECG results and assess any 
abnormal results as “not clinically significant” or “clinically significant.” Any results that are 
considered clinically significant may be confirmed in a repeat test at the investigator’s discretion. 
Clinically significant ECG abnormalities that meet the definition of an AE or SAE are to be 
recorded in the AE eCRF. 
12.1.5. 
Laboratory Assessments 
Additional information on collection, processing, and shipping procedures for any biological 
samples will be provided in study laboratory manual(s). At the investigator’s discretion, local 
collection of blood or other samples for completion of safety-related laboratory assessments may 
be requested at any time. 
12.1.5.1. Clinical Safety Laboratory Assessments 
Samples collected for clinical safety laboratory assessments, including serum chemistry, 
hematology, and urinalysis (Table 4) will be performed prior to injection from Day -30 to Day -2 
(baseline), Visit 2, and at follow-up visits. During the period of time in which COVID-19 
contingency measures are in place, the subject may have samples collected at a local laboratory 

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for the clinical safety laboratory assessments (see Remote Patient Visit Plan). For subjects who 
utilize local laboratory sample collection, local laboratory normal ranges are to be reported. 
Subject’s fasting status is to be recorded. For baseline on Day -1 and all post-transfer days except 
Day 21, prothrombin time (PT), international normalized ratio (INR), activated partial 
thromboplastin time (APTT), and fibrinogen will be measured. These may also be performed at 
additional time points at the investigator’s discretion. At Visit 1, subjects will also be evaluated 
to ensure there is no active viral infection (includes HIV or serology positive for hepatitis B or 
C). Repeat or further blood or urine testing (eg, blood smear and urine microscopy) may be done 
for abnormal values at the investigator’s discretion (reflex testing). 
The clinical safety laboratory assessments include ALT, AST, GGT, and bilirubin. These 
analytes will also be tested as needed, including 1 to 2 weeks before initiating the final dose of 
steroid (during down-tapering) and 2 weeks after the final dose of steroid (see Section 9.1.1). As 
needed, these assessments may be performed locally. 
Table 4: 
Clinical Safety Laboratory Parameters 
Serum Chemistry 
Hematology 
Urinalysis 
sodium, potassium, chloride, 
calcium, magnesium, 
phosphorus, bicarbonate (carbon 
dioxide), blood urea nitrogen 
(BUN), creatinine, glucose, 
bilirubin (total, direct, and 
indirect), alanine 
aminotransferase (ALT), 
aspartate aminotransferase 
(AST), alkaline phosphatase 
(AlkPhos), gamma-glutamyl 
transferase (GGT, lactate 
dehydrogenase (LDH), amylase, 
troponin, creatine kinase (CK, 
also known as creatine 
phosphokinase), albumin, total 
protein, uric acid 
white blood cell (WBC) count, 
red blood cell (RBC) count, 
hemoglobin, hematocrit, mean 
corpuscular volume (MCV), 
mean corpuscular hemoglobin 
(MCH), mean corpuscular 
hemoglobin concentration 
(MCHC), red cell distribution 
width (RDW), platelet count, 
mean platelet volume (MPV), 
and WBC differential 
(automated or manual; possibly 
including neutrophils, 
segmented neutrophils, 
lymphocytes, monocytes, 
eosinophils, basophils, and 
bands [immature neutrophils]) 
color, appearance, specific 
gravity, pH, protein, glucose, 
ketones, bilirubin, occult blood, 
nitrite, urobilinogen, leukocyte 
esterase, and microscopic 
urinalysis, including for 
presence of red blood cells 
(RBC), white blood cells 
(WBC), mucus, and epithelial 
cells 
Note: At the time points described in text, these analytes are also measured: prothrombin time (PT), international 
normalized ratio (INR), activated partial thromboplastin time (APTT), and fibrinogen. 
The investigator or a suitably qualified delegate will review laboratory results and assess 
out-of-range laboratory results as “not clinically significant” or “clinically significant.” Results 
assessed as potentially clinically significant are to be repeated during the same visit whenever 
possible. If the test result returns after the subject leaves the site, they will be immediately 
contacted. For local residents, they will be asked to return to the outpatient clinic for a repeat 
test. For non-local residents, arrangements will be made to have the test repeated by a 
clinic/laboratory close to home or by their primary care physician. To avoid any confusion for 
the primary care physician, they will have been informed (refer to Section 12.6.1) of the 
subject’s participation in the study. If the laboratory finding constitutes as an AE that requires 
treatment, this may be carried out by the subject’s primary care physician or another doctor. Any 
obtained copies of repeat laboratory tests or other relevant medical records will be added to the 

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subject’s research chart. The investigator is to consider repeat testing of persistent clinically 
significant results until the analyte returns to normal levels or until an etiology is determined. 
Clinically significant laboratory abnormalities are to be captured as an AE or SAE, as 
appropriate. 
The investigator or a suitably qualified delegate will sign and date all laboratory reports. 
12.1.5.2. Confirmatory Genotyping 
Confirmatory genotyping will be done if the subject does not have a genotype report in their 
source file from a CAP/CLIA-certified laboratory (or a non-US laboratory with an equivalent 
national accreditation/certification). As needed, a blood sample for this confirmatory genotyping 
will be collected at Visit 1. 
12.1.5.3. Immunogenicity Assessments 
Blood sample collection for immunogenicity assessments will be performed at baseline and at 
each site visit from Day 7 through Month 24.  
Assessments will include measurements of anti-AAV9 and anti-CLN6 antibodies and 
measurement of T-cell responses (eg, separate IFN-γ ELISpot assays to detect T-cell responses 
to CLN6 peptides or AAV9) will occur from Day -30 to Day -2 (baseline/screening), at 
follow-up site visits on Days 7, 14, 21, and 30 (Visits 3 to 6), and at Months 6, 9, 12, 18, and 24, 
(Visits 7 to 10, Visit 12, and Visit 14). If there is insufficient sample volume to complete an 
assessment, missing immunogenicity assessments will not be considered a protocol deviation. 
12.1.5.4. Viral Shedding 
The extent of viral shedding is not fully understood. Assessment of viral shedding will be 
performed in all subjects as part of this gene transfer protocol. If the subject has a sibling who is 
affected (or potentially affected) and may potentially be treated with gene transfer, the subject’s 
parents will be advised to keep siblings separated during the time of potential viral shedding and 
appropriate measures will be taught to try to prevent exposure. 
Once at baseline (Visit 1) then at each follow-up site visit, starting with Visit 3, saliva, stool, and 
urine will be collected for assessment of viral shedding. Collection of urine, saliva, and stool for 
assessment of viral shedding may not continue throughout the study; this will be determined 
individually for each subject and for each sample type. For an individual subject, once a sample 
type (ie, urine, saliva, or stool) has 3 consecutive negative results, that sample type will no longer 
be collected for assessment of viral shedding. 
The specimens will be tested with a quantitative polymerase chain reaction (qPCR) method to 
measure the presence of AAV vector genomes in real time (at least for those subjects with a 
known or potentially affected sibling); for subjects without siblings, the qPCR testing is to be 
completed before the subject’s next visit. Samples awaiting testing or remaining samples 
following completion of qPCR testing will be placed in a deoxyribonuclease/ribonuclease-free 
Eppendorf tube with locking top. The tubes will be stored in a -80°C freezer. 

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12.1.5.5. Samples for Reanalysis or Future Assessments 
Any biological specimens remaining at the end of the study may be used for re-assay, future 
assay development and validation, or for future exploratory analyses to improve the 
understanding of vLINCL6 disease and its management. 
Additionally, for subjects who consent, additional biological sample collection for safety, 
efficacy, or other research assessments may also be performed at each annual visit. Biological 
samples collected may include blood, saliva, stool, urine, and/or CSF.  
Lumbar puncture will be performed on Day 0 for administration of AT-GTX-501 and collection 
of CSF. Any additional CSF collection at Month 24 will be as per the consent documents/text 
related to anesthesia, as anesthesia is required for the lumbar puncture. The potential additional 
CSF collection at Month 24 would occur following any other EUAs (described in Section 11.9).  
12.2. 
Adverse and Serious Adverse Events  
The investigator and study personnel are responsible for detecting, documenting, and reporting 
AEs and SAEs. For each subject, reporting of AEs and SAEs is to begin after written informed 
consent is provided. Through the Month 24 visit, all AEs will be followed until resolution or 
stabilization. Any AEs ongoing at the conclusion of the study that are not considered related to 
AT-GTX-501 will not be followed after the subject completes the Month 24 visit. 
Throughout the study, opportunities to report AEs will be provided. The definitions of AE and 
SAE are in Section 12.2.1.1 and Section 12.2.1.2, respectively. Reporting instructions for AEs 
and SAEs are in Section 12.5.1 and Section 12.5.2, respectively.  
If needed to determine appropriate treatment or the causality of AEs/SAEs, appropriate 
follow-up procedures will be conducted. 
12.2.1. 
Definition of Adverse Events 
12.2.1.1. Adverse Event 
An AE is defined as any untoward medical occurrence in a subject administered a 
pharmaceutical product, biologic, or medical device (medicinal products). The AE does not 
necessarily have a causal relationship with the medicinal product. An AE can therefore be any 
unfavorable and unintended sign, symptom, or disease temporally associated with the use of a 
medicinal product, whether or not considered related to the medicinal product. Adverse events 
may include the onset of new illness and the exacerbation of pre-existing conditions. 
Therefore, AEs may include: 
• New signs, symptoms, conditions, or illnesses 
• Exacerbation (eg, increase in intensity, frequency) of pre-existing signs, symptoms, 
conditions, or illnesses after subjects provide informed consent 
• AEs related to a protocol-required procedure 
• Abnormal laboratory findings deemed clinically significant by the investigator 

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• Physical or neurological examination changes deemed clinically significant by the 
investigator 
• Other abnormal medical findings (eg, ECG) that were not documented at Visit 1 
and/or, in the investigator’s opinion, represent a clinically significant change in the 
subject’s health during study participation 
− Medical findings at Visit 1 (eg, ECG) that were not previously provided as 
medical history but can be determined as starting prior to Visit 1 are not 
considered AEs and are to be recorded as medical history 
12.2.1.2. Serious Adverse Event 
An SAE is an AE occurring during any study phase (eg, baseline, treatment, or follow-up) that 
fulfils any of the following: 
• Results in death 
• It is life-threatening (places the subject at immediate risk of death) 
− As assessed by either the investigator or Amicus 
− This does not include an AE that, had it occurred in a more serious form, 
hypothetically might have caused death. 
• It requires inpatient hospitalization or prolongs existing hospitalization 
− Emergency room/department or outpatient treatments that do not result in 
admission do not have to be reported as an SAE, unless another SAE criterion is 
met. 
− Events assessed and treated in these circumstances are to be captured as AEs. 
− Hospitalizations for elective or pre-planned treatment of a pre-existing condition 
do not have to be reported as SAEs provided the condition is documented in the 
subject’s source documents and has not worsened since written informed consent 
was first completed 
− Hospitalization signifies the subject has been admitted, regardless of duration, for 
observation and/or treatment that would not have been appropriate in a 
physician’s office or outpatient setting. 
− Hospitalizations solely based on logistics (eg, subject is admitted due to limited 
hospital accessibility for what would otherwise be an outpatient procedure) do not 
have to be reported as SAEs, provided they are clearly defined as such in the 
subject’s source record. 
• It results in persistent or significant incapacity or substantial disruption of the ability 
to conduct normal life functions 
• It results in a congenital anomaly/birth defect 
An important medical event that may not result in any of the above serious outcomes may be 
considered an SAE when, based upon appropriate medical judgment, it may jeopardize the 

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subject and may require medical or surgical intervention to prevent any of the above serious 
outcomes. Examples of such medical events include allergic bronchospasm requiring intensive 
treatment in an emergency room or at home, blood dyscrasias, convulsions that do not result in 
inpatient hospitalization, or development of drug dependency or drug abuse. 
If the following 4 elements are known regarding an SAE, the event must be reported as described 
in Section 12.5.2: 
• Identifiable subject 
• AE term 
• Study treatment, AT-GTX-501 
• Identifiable reporter 
Additionally, the investigator’s assessment of an event’s relationship to AT-GTX-501 
(see Section 12.3) is essential for Amicus to appropriately process the report and is to be 
included.  
Subjects are to be informed that they are to report events meeting the definition of seriousness to 
study personnel as soon as possible (and to not wait until their next study visit). If a non-serious 
AE becomes an SAE, the change in status is to be appropriately entered in the case report form 
(CRF) and the subject’s source record, and reported to Amicus as described in Section 12.5.2.  
12.2.1.3. Expected Events Related to Disease Progression 
Subjects enrolled in this clinical protocol are expected to present clinically with events related to 
natural progression of the disease.  
Any AEs determined to be due to the underlying disease progression may not be subject to the 
expedited reporting requirements outlined in Section 12.5.3. Changes in these disease symptoms 
are to be reviewed by the investigator or a medically qualified sub-investigator. Expected or 
anticipated changes in these clinical conditions may not qualify as AEs. However, if there is a 
clinically relevant worsening of a sign or symptom of the disease under treatment and the 
outcome fulfills the definition of an AE, it is to be reported. 
Anticipated vLINCL6 disease-related signs and symptoms related to progression of the disease 
are:  
• Impaired motor function 
 
• Impaired speech 
 
• Impaired cognitive function 
• Movement disorder 
 
• Seizures 
 
• Hallucinations 
• Sleep abnormalities 
 
• Behavioral difficulties 
• Blindness 
• Irritability 
 
• Dementia 
 

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12.2.1.4. Anticipated Adverse Events of Laboratory Findings Related to Intervention 
Following gene transfer, elevation of transaminases (levels up to 5X the upper limit of normal 
[ULN]) with preserved liver synthetic function and no significant elevation in GGT are 
anticipated and will be recorded as AEs and graded per CTCAE guidelines. Mild decreases in 
leukocyte and lymphocyte counts within the first 30 days after gene transfer have been observed 
in other studies of AAV-mediated gene transfer. Such transient decreases in lymphocytes or 
leukocytes will be recorded as AEs but considered anticipated. 
Leukocytosis and neutrophilia during prednisone or prednisolone treatment: 
An elevation of up to 5000 cells/mm3 above the subject’s baseline value is expected in the 
neutrophil count (the primary granulocyte in circulation) and, consequently, in the leukocyte 
count within 5 hours of initiating prednisone or prednisolone therapy, based upon studies in 
healthy adult volunteers. This occurs secondary to release of granulocytes from the 
marginated pool into the circulation accompanied by an increase in the size of the marginated 
granulocyte pool due to steroids (Munroe, Mitchison et al. 1997; Cotman, Vrbanac et al. 
2002). This steroid effect may be seen with increased steroid dosing. 
12.2.1.5. Dose-limiting Toxicity 
A DLT is defined as any unanticipated AE that is related to AT-GTX-501 (events assessed by 
the investigator as definitely, probably, or possibly related) and is Grade 3 or higher, according 
to the CTCAE version 4.0 (published 28 May 2009). See Section 12.4.1 for further description of 
the CTCAE grades. 
12.3. 
Relationship to Study Treatment 
The investigator or a medically qualified sub-investigator will review each AE and assess its 
relationship to AT-GTX-501 based on available information and according to the following 
guidelines: 
• Definite (1): A reaction that follows a distinct temporal relationship from 
administration of the study treatment that follows a known reaction to the agent or 
chemical group of the study treatment; and that cannot be explained by the subject’s 
clinical state or other factors 
• Probable (2): A reaction that follows a reasonable temporal sequence from 
administration of the study treatment; that follows a known or expected response 
pattern to the suspected study treatment; and that could not be reasonably explained 
by the known characteristics of that subject’s clinical state 
• Possible (3): A reaction that follows a reasonable temporal sequence from 
administration of the study treatment; that follows a known or expected response 
pattern to the suspected study treatment; but that could readily have been produced by 
a number of other factors 
• Unlikely (4): A reaction that does not follow a reasonable temporal sequence from 
administration of study treatment. However, causality from the medication cannot be 
excluded 

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• Unrelated (5): A reaction for which sufficient data exist to indicate that the etiology 
is unrelated to the study treatment 
For the purpose of the definition of DLTs (as defined in Section 12.2.1.5) and expedited SAE 
regulatory reporting obligations (ie, to regulatory authorities and the Institutional Review Board 
[IRB]), events assessed by the investigator as definitely, probably, or possibly related to 
AT-GTX-501 will be considered “related” to AT-GTX-501. Events assessed as unlikely or 
unrelated will be considered “not related” to AT-GTX-501. 
12.4. 
Recording Adverse Events 
For each subject, reporting of AEs begins after written informed consent is completed. Adverse 
events may be volunteered spontaneously by the subject or discovered as a result of general, 
non-leading questioning by or observation by study personnel.  
Adverse events will be recorded in the CRF and subject’s source record beginning from the time 
written informed consent is completed through the end of this study. The AE term is to be 
reported in standard medical terminology when possible. A single diagnosis is to be entered 
when known. If a clear diagnosis cannot be determined at the time of CRF and the subject’s 
source record entry, each sign and symptom is to be recorded individually until a final diagnosis 
is established.  
For each AE, the following is to be recorded: 
• Date and, as possible, time the AE started and ended  
• Action(s) taken with study treatment 
• Outcome (resolved, resolved with sequelae, ongoing, or fatal)  
• Intensity (see Section 12.4.1) 
• Relationship to AT-GTX-501 (see Section 12.3) 
Additional required information may be detailed in CRF completion guidelines. 
All conditions (including those that are considered related to vLINCL6 disease), signs, or 
symptoms that are reported as part of the subject’s medical history are only to be reported as AEs 
if they worsen (ie, increase in intensity) following the completion of Visit 1. If a nonserious AE 
becomes serious, the SAE must be reported as described in Section 12.5.2. 
12.4.1. 
Assessment of Adverse Event Intensity 
When the determination of AE intensity rests on medical judgment, the determination of 
intensity must be made with the appropriate involvement of the investigator or a qualified 
sub-investigator. 
The definitions/classification for rating intensity will follow the guidelines outlined in CTCAE 
version 4.0 (published 28 May 2009), which includes: 
• Grade 1  Mild; asymptomatic or mild symptoms; clinical or diagnostic observations 
only; intervention not indicated 

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• Grade 2  Moderate; minimal, local, or noninvasive intervention indicated; limiting 
age-appropriate instrumental activities of daily living 
• Grade 3  Severe or medically significant but not immediately life-threatening; 
hospitalization or prolongation of hospitalization indicated; disabling; limiting 
self-care activities of daily living  
• Grade 4  Life-threatening consequences; urgent intervention indicated 
• Grade 5  Death related to AE 
Note: A semi-colon indicates ‘or’ within the description of the grade. 
Note: Instrumental activities of daily living refer to preparing meals, shopping for 
groceries or clothes, using the telephone, managing money, etc.  
Note: Self-care activities of daily living refer to bathing, dressing and undressing, feeding 
self, using the toilet, taking medications, and not bedridden. 
12.4.2. 
Distinction Between Serious and Severe Adverse Events 
It is important to distinguish between SAEs and AEs that are severe (Grade 3 or greater). 
Severity is a measure of intensity whereas seriousness is defined by the criteria under 
Section 12.2.1.2. An AE of severe intensity may not be considered serious. Adverse events of 
severe intensity are not SAEs unless any of the listed outcomes in Section 12.2.1.2 occurs. 
Adverse events of any intensity must be reported as SAEs if at least any of the listed outcomes in 
Section 12.2.1.2 occurs. 
12.4.3. 
Changes in Laboratory Values, Blood Pressure, or Other Measures 
Consistent with Section 12.2.1.1, out-of-normal range results for laboratory values, blood 
pressure, and other measures (eg, pulse) are not required to be reported as AEs. Only results that 
the investigator deems clinically significant are to be reported as an AE or SAE. 
12.5. 
Reporting Adverse Events 
The COVID-19 contingency measures (see Remote Patient Visit Plan) do not affect the reporting 
timelines for AEs and SAEs described below in Section 12.5.1, Section 12.5.2, and 
Section 12.5.3.  
12.5.1. 
Reporting of Adverse Events 
The clinical course of each AE is to be followed according to accepted standards of medical 
practice. 
In the case of withdrawal due to an AE or SAE, the subject is to be followed until resolution of 
the event, or until (in the opinion of the investigator) the AE has stabilized and the investigator 
does not expect any further improvement or worsening of the subject’s condition and/or the 
subject has been referred to their primary physician for appropriate management of the ongoing 
event. Relevant clinical assessments and laboratory tests are to be repeated as clinically 
appropriate, such as until final resolution or stabilization of the event(s). Reasonable efforts are 

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to be made to contact any subject who fails to attend any follow-up appointments in order to 
ensure that he/she is in satisfactory health. 
If the investigator considers it necessary to report an AE in a study subject more than 30 days 
after their last visit, he or she is instructed to contact Amicus to determine how the AE must be 
documented and reported. 
Investigators are also responsible for reporting AE information to the relevant IRB in accordance 
with the requirements of their institutions.  
12.5.2. 
Reporting of Serious Adverse Events 
All SAEs are to be documented and reported to Amicus immediately, but no later than 24 hours 
of any study personnel knowledge of events, regardless of any assessment of the event as 
related or not related to study treatment. Each SAE report is to be faxed to the designated safety 
fax number (+ 1 866-422-1278) to ensure appropriate dissemination and processing of the 
information. An alternate email address is provided as a backup (Table 1), if the fax transmission 
is unsuccessful. 
If multiple SAEs are identified in a subject simultaneously, separate SAE reports are to be 
completed for each event. 
The SAE forms, which will be provided by Amicus, are to be as complete as possible, with all 
known information at the time included. Reporting timelines (as described above) are not to be 
delayed while obtaining or preparing supporting information. All known details of the SAE, 
including an assessment of the causal relationship between the event and AT-GTX-501, are to be 
included in the initial report. All available relevant supporting documentation (eg, admission and 
progress notes, results of diagnostic evaluations/procedures/examinations, etc) available at the 
time of initial reporting are also to be included. All supporting documents are to be thoroughly 
reviewed and de-identified in accordance with local data privacy regulations prior to sending to 
Amicus. If submitted by fax, the subject’s study number must be included on each page included 
in the fax. If submitted by email, the subject’s study number must be included in the subject line 
of the email. 
Information not available at the time of the initial report (eg, event end date and outcome, 
discharge summary, etc) must be faxed to the designated safety fax number within 24 hours of 
any study personnel knowledge of the information (or emailed if the fax is unsuccessful). As 
when included in initial reports, all supporting documents are to be thoroughly reviewed and 
de-identified in accordance with local data privacy regulations prior to submission to Amicus. If 
submitted by fax, the subject’s study number must be included on each page included in the fax. 
If submitted by email, the subject’s study number must be included in the subject line of the 
email. 
For any AE resulting in death, any available autopsy/pathologist’s report is to be supplied.  
Concomitant medications, AE, or other information obtained through SAE reporting must also 
be recorded in the appropriate CRF. If new medical or medication history is obtained via SAE 
reporting, the addition of the data to the clinical database is to be reported in an appropriate CRF. 
If the investigator becomes aware of an SAE in a subject or receives an unsolicited report of an 
SAE from a subject more than 30 days after their last study visit and considers the event 

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possibly, probably, or definitely related to previously receiving AT-GTX-501, they are instructed 
to contact Amicus to determine how the SAE is to be documented and reported. 
12.5.3. 
Additional Reporting Requirements for Suspected Unexpected Serious Adverse 
Reactions  
Any AE that is serious, unexpected, and associated with the use of study treatment has additional 
reporting requirements. For each SAE, Amicus will determine the expectedness of AEs 
according to current safety reference document.  
Amicus is responsible for processing suspected unexpected serious adverse reactions (SUSARs). 
These SUSAR reports are also referred to as alert reports, expedited safety reports, and 
investigational new drug (IND) safety reports. A SUSAR is defined as any SAE that is 
determined to be associated with the use of the study treatment and is unexpected (not currently 
listed in the current safety reference document, as described in Section 12.2.1.3, or is not listed at 
the specificity or severity that has been observed). 
Amicus will ensure SUSARs are reported to the FDA, in accordance with local laws.  
• If the SUSAR is fatal or life-threatening, regulatory authorities and ethics committees 
are to be notified within 7 calendar days after Amicus learns of the event. 
• If the SUSAR is not fatal or life-threatening, regulatory authorities and ethics 
committees are to be notified within 15 calendar days after Amicus learns of the 
event. 
Additionally, safety updates will be provided periodically to the FDA and the relevant IRB. 
These updates will include information on SUSARs as well as other relevant safety findings.  
12.6. 
Other Reporting Situations 
12.6.1. 
Reporting Information from Subject’s Primary Care Physician 
Throughout the study, any routine or non-routine visits to a subject’s primary care physician, or 
other medical care received during the study, are to be reported to study personnel. Informed 
consent will include consent to collect any relevant medical records from the subject’s other 
medical care providers. Also, close communication will be established by the investigator or 
their delegate with the primary care physician for each subject and will be maintained throughout 
the study. For the primary care physician, the important hallmarks of the study along with the 
proposed reporting plan will be explained. Laboratory reports, hospitalizations, clinical notes, 
and any other relevant medical records will be requested at the time of their occurrence. 
As appropriate, the investigator or their delegate will report salient information received on the 
appropriate CRF (eg, AEs and concomitant medications). 

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13. 
STATISTICS 
An overview of known statistical considerations is included below. Descriptions of all endpoints 
and their planned analyses will be detailed in the Statistical Analysis Plan (SAP).  
13.1. 
Endpoints 
13.1.1. 
Safety Endpoints 
The safety endpoints will be defined based on parameters from the assessments described within 
Section 12. 
13.1.2. 
Efficacy Endpoints 
The efficacy endpoints will be defined based on parameters from the assessments described 
within Section 11. The primary efficacy outcome will be based on the Hamburg Motor and 
Language scores. 
13.2. 
Statistical Methods 
13.2.1. 
General Considerations 
As appropriate, data analyses will be analyzed both with respect to the subject’s age and 
respective date of receipt of AT-GTX-501. If a subject has 1 or more siblings who was untreated 
and for whom relevant data are available, or a sibling who was also treated with AT-GTX-501, 
relevant comparisons will be presented. If needed, separate analyses will be performed for 
subjects who receive other treatments that may be disease-altering (eg, another approach to gene 
transfer or other investigative or prescription product). Natural history data on patients with 
vLINCL6 disease and/or pre-treatment data from subjects in Study AT-GTX-501-01 may also be 
included in analyses. As needed and as possible, analyses will account for changes in assessment 
methodology, such as a change in the cognitive assessment as per the study neuropsychologist 
(see Section 11.6). 
By-subject listings will be prepared for all eCRF-collected data. 
13.2.1.1. Baseline Definition 
Baseline is generally defined as the measure immediately preceding receipt of AT-GTX-501.  
13.2.1.2. Descriptive Statistics 
Data will be summarized with descriptive statistics and/or response frequencies. For continuous 
data, descriptive statistics will include sample size (n), mean, standard deviation, median, Q1, 
Q3, minimum, and maximum. For categorical data, descriptive statistics will be category 
frequency counts and proportions (or percentages) of the number of subjects used in the analysis. 
The counts for the categories of ‘Missing’, ‘Unknown’ or ‘Not applicable’ will be provided as 
appropriate, but the percentages will not be provided. 
13.2.1.3. Handling of Missing Data 
Handling of missing data will be as described in the SAP. 

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13.2.2. 
Demographic and Baseline Characteristics 
Demographics and baseline characteristics will be summarized as described in the SAP. 
13.2.3. 
Exposure 
Descriptive statistics for duration since administration of AT-GTX-501 will be provided. 
13.2.4. 
Safety Analyses 
All safety analyses will be performed using the safety population. In addition to the summaries 
described in the below subsections, a brief tabular narrative for each subject describing age, sex, 
race, ethnicity, and other relevant demographic characteristics may be prepared. The tabular 
narrative may also include such things as each subject’s genotype, study status (ie, duration since 
treatment, completed the study [Yes/No], and [if “No”] reason for discontinuing the study 
prematurely), relevant AE information, and medical and medication history. 
13.2.4.1. Adverse Events 
Adverse events will be coded to System Organ Class (SOC) and preferred term using the 
Medical Dictionary for Regulatory Activities (MedDRA; version 20.1 or later). 
All AEs that occur during this study after receipt of AT-GTX-501 will be classified as TEAEs. 
Summaries of AEs and TEAEs will be prepared overall and for each subject. Summaries of 
non-serious AEs and TEAEs (ie, all except SAEs) will also be prepared to support future 
ClinicalTrials.gov reporting requirements. 
13.2.4.1.1. Summaries of Adverse Event Incidence Rates for All Subjects 
The number and percentage of subjects with TEAEs will be summarized by preferred term and 
then also by SOC and preferred term within each SOC. Additional displays will present TEAEs 
by intensity (5 CTCAE levels), by relationship to study treatment (Related Events: definite, 
probable, and possible; Unrelated Events: unlikely and unrelated), and by outcome of events. 
Moreover, the number of TEAEs (as opposed to the number and percentage of subjects) will be 
presented. A summary of non-serious TEAEs (all TEAEs except SAEs) will also be presented by 
SOC and preferred term. 
13.2.4.1.2. Summaries of Adverse Event Incidence Rates for Serious Adverse Events, 
Adverse Event Dropouts, and Death 
Summaries of SAEs will be prepared overall and for each subject. 
The number and percentage of subjects who experienced SAEs and/or TEAEs leading to 
withdrawal from the study will be presented by SOC and by preferred term within each SOC. 
Serious TEAEs and TEAEs leading to withdrawal from the study will be similarly presented by 
intensity (5 CTCAE levels), by relationship to AT-GTX-501 (Related Events: definite, probable, 
and possible; Unrelated Events: unlikely and unrelated), and by outcome of events. Moreover, 
the number of treatment-emergent SAEs (as opposed to the number and percentage of subjects) 
and TEAEs leading to withdrawal will be presented. 

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Listings of SAEs, TEAEs leading to withdrawal from the study, and deaths, if any, will also be 
provided. 
13.2.4.2. Clinical Safety Laboratory Data 
Routine clinical safety laboratory data will include serum chemistry, hematology, and urinalysis. 
Quantitative laboratory test result summaries will include N, mean, standard deviation (SD), 
median, and range. Qualitative tests (eg, certain urinalysis assessments) will be summarized by 
the number and percentage of subjects in each category, as appropriate. 
Descriptive statistics for laboratory data at each visit starting from baseline and change from 
baseline to each post-baseline visit will be presented. Data will be attributed to scheduled visits 
as described in the SAP. 
Potentially clinically significant (PCS) laboratory values at any time during the study may be 
summarized by laboratory parameter. The PCS criteria for laboratory values would be as defined 
in the SAP. 
13.2.4.3. Vital Signs 
Descriptive statistics for vital signs at each visit starting at baseline to each post-baseline visit 
will be presented for systolic and diastolic BPs, body temperature, HR, and RR. Change from 
baseline to each post-baseline visit may also be presented. 
The PCS vital sign changes at any time during the study may be summarized by parameter. The 
PCS criteria for vital signs would be as defined in the SAP. 
13.2.4.4. Physical Examinations 
Baseline physical examination results will be summarized by body system, presenting the 
number and percentage of subjects judged to be normal, abnormal, or not performed for each 
body system. 
For subjects with a physical examination during the study, a shift table of changes from baseline 
will be presented by body system for each post-baseline visit. 
13.2.4.5. Electrocardiograms 
Descriptive statistics for quantitative ECG data at each visit starting from baseline and change 
from baseline to each post-baseline visit will be presented. 
The PCS values for quantitative ECG data at any time during the study may be summarized by 
parameter. The PCS criteria for quantitative ECG data would be as defined in the SAP. 
13.2.4.6. Concomitant Medications and Non-drug Therapies 
The number and percentage of subjects using concomitant medications will be summarized by 
their anatomical therapeutic chemical (ATC) class and preferred term within each ATC class. 
Concomitant medications will be coded into their ATC class and preferred term using the World 
Health Organization Drug Dictionary Enhanced (WHO DDE; Sep 2014 or later version). 
Non-drug therapies, other procedures (eg, physical or occupational therapy, surgeries), or 
accommodations (eg, wheelchair use) will be listed. 

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13.2.4.7. Subgroup Analyses 
Subgroup analyses may include presentation by age group and sex for TEAEs, SAEs, and any 
TEAEs resulting in withdrawal. 
13.2.5. 
Efficacy Analyses 
Analyses of all efficacy endpoints will be as described in the SAP. In general, descriptive 
statistics for efficacy data at each visit starting from baseline and change from baseline to each 
post-baseline visit will be presented. 
For the primary efficacy endpoints, analyses comparing study data with natural history data will 
be performed as described in the SAP. 

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14. 
DIRECT ACCESS TO SOURCE DATA/DOCUMENTS  
14.1. 
Study Monitoring 
The study will be monitored in compliance with the relevant parts of 21 CFR and according to 
the ICH GCP guidelines. The procedures outlined in the protocol and CRFs will be carefully 
reviewed by the investigator and study personnel prior to study initiation to ensure appropriate 
interpretation and implementation. No deviations from the protocol shall be made except in 
emergency situations where alternative treatment is necessary for the protection, proper care, and 
wellbeing of subjects. 
Amendments will be submitted to the IRB for their review and approval prior to implementation. 
When an amendment to the protocol substantially alters the study design or increases potential 
risk to the study subject, the informed consent form (ICF) will be revised and, if applicable, 
consent to continue the subject’s participation will again be obtained. 
14.2. 
Audits and Inspections 
Domestic and foreign regulatory authorities, the IRB, or an auditor authorized by Amicus may 
request access to all source documents, eCRFs, and other study-related documentation for a site 
audit or inspection. Direct access to these documents must be guaranteed by the investigator, 
who is to provide support at all times for these activities. Source documents (including medical 
records) and other study documents may be copied during an audit or inspection provided that 
subject names are obliterated on the copies to ensure confidentiality. 
The investigator is to contact Amicus immediately if contacted by a regulatory authority 
regarding an inspection or audit. 
14.3. 
Institutional Review Board 
The investigator for each site must obtain IRB approval for the investigation. Initial IRB 
approval and all materials approved by the IRB for this study, including the ICF, assent form 
(if/when applicable), and recruitment materials, must be maintained by the investigator and made 
available for inspection. 
14.4. 
Data Safety Monitoring Board 
A DSMB is in place to regularly monitor the safety of subjects. The membership and procedures 
are specified by a DSMB Charter. 
14.4.1. 
Data Safety Monitoring Board Responsibilities 
The responsibilities of the DSMB include: 
• Approving the DSMB Charter, which outlines the responsibilities, functions, rules for 
conduct, and the basis for monitoring the trial 
• Reviewing reports relevant to trial conduct and assumptions, safety variables, making 
recommendations regarding changes or adjustments and preserving the trial integrity 

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• Suggesting modifications of outputs for the next DSMB meeting (if necessary and 
applicable) 
• Suggesting modifications to the trial protocol; modifications may include, but are not 
limited to: changes in inclusion/exclusion criteria, frequency of visits or safety 
monitoring, alterations in trial procedures or trial conduct, if applicable (the DSMB 
should recognize that making suggested modifications after having seen study data 
has the potential to jeopardize the integrity of the trial; therefore, such 
recommendations should generally be made only to protect the safety of the 
participants in the trial) 
• Recommending either continuation of the trial according to the protocol and any 
relevant amendments or discontinuation of the trial (with provisions for orderly 
discontinuation in accordance with GCP) 
14.4.2. 
Data Safety Monitoring Board Reporting and Meetings 
Reports describing the status of the study will be prepared and sent at the DSMB’s request. The 
DSMB met prior to dosing of the first subject and was provided with a report after dosing 
Subject 1. A teleconference with the DSMB was conducted after dosing of Subject 3. 
Routine meetings of the DSMB will be held as per their charter, via video conference or webinar 
call. All DSMB discussions are confidential. An ad hoc meeting of the DSMB may be called at 
any time by the Chairperson should ethical or patient safety issues arise.  
Reports will include, but are not limited to, the following: 
• A brief narrative of the study status, including the target enrollment, current and 
projected time to completing enrollment, and a brief description of any significant 
events and/or difficulties 
• A brief narrative for each subject describing gender, age, race and ethnicity and other 
relevant demographic characteristics, as well as a brief description of his/her study 
status (ie, dose level, visit number, AE information) 
• A timeline outlining the study progress relative to visit number for each subject, as 
well as time points for each SAE/DLTs, and a total of AEs for each participant 
• A summary of clinically significant laboratory test results 
• A listing of protocol deviations 
14.4.3. 
Data Safety Monitoring Board Membership 
Each DSMB member will be an expert in clinical trials conduct, one or more fields relevant to 
the disease under study, the evaluation of safety to be monitored during the trials, and/or the 
biostatistical evaluation of the study results. The members are to have experience in performing 
clinical trials and have knowledge of GCP guidelines and a general understanding of regulatory 
requirements for drug development. Statistical support for this DSMB is provided by an 
experienced independent biostatistician from Amicus.  
The DSMB membership will consist of individuals completely independent of the investigator. 
Some DSMB members, due to their expertise, may be from an institution where the study is 

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being conducted. In this event, the situation will be made known to the DSMB membership. 
Moreover, the DSMB member will not discuss or become involved in any discussions or 
communications with the investigator that concern any matters or responsibilities of the DSMB.  
Each DSMB member is to notify Amicus in writing of any actual or potential conflict of interest 
between their personal interests and the role of the DSMB. Conflicts of interest can include 
professional, proprietary, and miscellaneous interests. DSMB members are under a continuing 
obligation to notify Amicus promptly, in writing, through the DSMB chairperson, of any further 
potential conflicts of interest arising during the time they are serving on the DSMB. 

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15. 
QUALITY CONTROL AND QUALITY ASSURANCE 
To ensure compliance with GCP and all applicable regulatory requirements, Amicus may 
conduct a quality assurance assessment and/or audit of the site records, and the regulatory 
agencies may conduct a regulatory inspection at any time during or after completion of the study. 
In the event of an assessment, audit, or inspection, the investigator (and medical institution) must 
agree to grant the advisor(s), auditor(s), and inspector(s) direct access to all relevant documents 
and to allocate their time and the time of their staff to discuss the conduct of the study, any 
findings/relevant issues, and to implement any corrective and/or preventative actions to address 
any findings/issues identified during the regulatory audit or inspection. 

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16. 
ETHICS 
All investigators are required to certify their compliance with ICH E6 GCP and, as applicable, 
their respective country’s applicable laws and regulations. 
Amicus will ensure that the conduct, monitoring, auditing, recording, analysis, and reporting of 
clinical study results are in accordance with ICH GCP, providing assurance that the data and 
reported results are credible and accurate and that the rights, safety, and well-being of subjects 
are protected. 
16.1. 
Ethics Review 
Prior to initiation of a study site, Amicus will obtain favorable opinion/approval from the 
appropriate regulatory agency to conduct the study in accordance with ICH GCP and applicable 
country-specific regulatory requirements. 
The final study protocol, including the final version of the ICFs (and assent forms, when 
applicable), must be approved or given a favorable opinion in writing by the IRB. The 
investigator must submit written approval to Amicus or their designee before he or she can 
recruit any subject into the study. Investigators may enroll subjects from their existing or 
incoming patients, ask other physicians for referrals of suitable patients, or advertise the study in 
public media after both review and approval by Amicus and the IRB.  
The investigator is responsible for informing the IRB of any amendment to the protocol in 
accordance with local requirements. In addition, the IRB must approve all advertising used to 
recruit subjects for the study. The protocol must be re-approved by the IRB upon receipt of 
amendments and annually, if applicable, as local regulations require. 
16.2. 
Ongoing Information for Independent Ethics Committees 
The information listed below will be submitted to the relevant independent ethics committee 
(ie, the IRB) according to timelines specified by the documented submission policies and 
procedures, or by local laws: 
• Information on AEs and SAEs 
• Expedited safety reports 
• Periodic reports on the progress of the study 
Submissions may be made by Amicus (or designee) or by the investigator. The parties 
responsible for submissions are to be identified and documented prior to the enrollment of a 
subject to this study. 
16.3. 
Ethical Conduct of the Study 
The study will be performed in accordance with ethical principles that have their origin in the 
Declaration of Helsinki and are consistent with ICH, GCP, and applicable regulatory 
requirements. 

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16.3.1. 
Study Protocol, Amendments, and Deviations 
If a clarification on a procedure or an error is found in the protocol, a protocol clarification 
memo will be sent to the study site and the IRB before an amendment is issued. 
Changes to the administrative aspects of the study (eg, changes in contact information or study 
personnel) will not require formal protocol amendments or IRB approval, but can be treated as 
administrative amendments. However, the IRB is to be kept informed of such changes. 
Non-administrative changes to the protocol, initiated either by Amicus or the investigator, will 
require a formal amendment procedure. Approval of all amendments must be obtained from 
Amicus, the IRB, and regulatory authorities (in accordance with local requirements) prior to 
implementation. 
The procedures outlined in the protocol and case report forms will be carefully reviewed by the 
investigator and study personnel prior to study initiation and following protocol amendments to 
ensure appropriate interpretation and implementation. Protocol deviations that may significantly 
impact subject safety or scientific integrity (eg, changes to eligibility criteria, addition or deletion 
of tests, dosing, duration of treatment, and/or other aspects of study design) are not permitted 
under GCP or by Amicus, unless necessary to eliminate an immediate hazard to the subject(s). 
Where Amicus and/or the investigator must take urgent safety measures to protect subjects from 
an immediate hazard or provide proper care, a protocol deviation may be allowed prior to 
obtaining approval from the IRB (and/or regulatory authorities) according to 
21 CFR 312.30(b) (2). In such cases, Amicus and the IRB must be notified within 1 business 
day. 
Amicus and the IRB, where required by local laws, must be informed of all protocol deviations 
and violations, and the investigator shall document such protocol deviations and violations in 
subject source documents and eCRFs. 
No amendments to the protocol will be implemented prior to agreement from Amicus and prior 
to approval from appropriate authorities. 
16.3.2. 
Delegation of Investigator Duties 
The investigator is to ensure that all persons assisting with the study are adequately qualified and 
informed about the protocol, any amendments to the protocol, the study treatment, and their 
study-related duties and functions. 
As appropriate, Amicus will select a coordinating investigator as a representative of all 
investigators for this study. Each investigator must maintain a list of sub-investigators and other 
appropriately qualified persons to whom they delegate significant study-related duties. 
Even if the investigator delegates any study-related duties to other qualified members of his or 
her study personnel, the investigator retains ultimate responsibility for obtaining written 
informed consent for study subjects; for ensuring that the investigation is conducted according to 
the protocol, the signed investigator statement (Form FDA 1572), and applicable regulations; for 
protecting the rights, safety, and welfare of study subjects; and for the control of the study 
treatment under evaluation. 

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16.4. 
Written Informed Consent 
Written informed consent is to be obtained for each subject before any study-related procedures 
are performed and after adequate explanation of the aims, methods, anticipated benefits, and 
potential hazards of the study. In addition to the subject’s preceding informed consent for the 
study, an additional informed consent is to be obtained using the NCH “Informed Consent to 
Participate in Telehealth Services” prior to any remote subject visits being performed. 
As the subjects in this study are under the legal age of consent, the ICF is to be signed by the 
personally dated signature (thumbprint or mark) of the subject’s parent, guardian, or 
legally-authorized representative in accordance with the relevant country and local regulatory 
requirements. Where allowed, subjects under the legal age of consent may sign an assent form. 
Any pediatric subject assent would be collected once the investigator judges that to be 
appropriate, based on the cognitive abilities of the subject. The ICF and, when applicable, the 
assent form, are to be in a language understandable to the individual providing consent and is to 
specify who informed the individual providing consent. Where required by local laws, the person 
who informs the individual providing consent must be a physician. 
The individual providing consent is to be provided the opportunity to read the informed consent 
document and have all their questions and concerns addressed before giving consent in writing. 
If the individual is unable to read, an oral presentation and explanation of the ICF and 
information must take place in the presence of an impartial witness. Details about why an oral 
presentation was used, how the information was presented, and how the individual providing 
consent provided consent are to be described in the subject’s source documents. 
A copy of the signed informed consent will be provided to the individual providing consent and 
the original will be retained in the Investigator Site File. An entry is to be made in the subject’s 
dated source documents and eCRF to confirm that informed consent was obtained prior to any 
study-related procedures and that the individual providing consent received a copy of the signed 
informed consent. 
The witness and the person conducting the informed consent discussions must also sign and 
personally date the consent document. Until a signed written informed consent has been 
obtained, the investigator will not undertake any measures specifically required for this study. 
The investigator will inform the subject’s primary physician about the subject’s participation in 
the study if the subject has a primary physician and if the subject agrees to the primary physician 
being informed. 
The principles of informed consent in the Declaration of Helsinki, in ICH GCP, and in US 
21 CFR Part 50 (Protection of Human Subjects) will be implemented before any 
protocol-specified procedures or interventions are carried out. 
The individual providing consent will be informed that the subject may withdraw from the study 
at any time without prejudice to further treatment. They will receive all information that is 
required by local regulations and ICH guidelines. 
When necessary, the ICF will be revised and the informed consent procedure will be repeated for 
each affected subject. 

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16.5. 
Confidentiality 
Subject names will not be supplied to Amicus. A unique subject number will be recorded in the 
eCRF, and if the subject name appears on any other document (eg, a laboratory report), it must 
be obliterated on the copy of the document to be supplied to Amicus. Study findings stored on a 
computer will be stored in accordance with local data protection laws. The subject will be 
informed that representatives of Amicus, the IRB, or regulatory authorities may inspect their 
source documents to verify the information collected, and that all personal information made 
available for inspection will be handled in strictest confidence and in accordance with local data 
protection laws. 
The investigator must assure that the subjects’ anonymity will be maintained through a personal 
subject identification list (subject numbers with corresponding subject names). On all study 
documentation, with the exception of the consent/assent form and subject identity logs, subjects 
are only to be identified by their unique identification code and initials and are not to be referred 
to by name. 
16.6. 
Reporting and Posting Requirements 
Amicus will be responsible for registering this study in a public registry that meets the 
requirements specified by the International Council of Medical Journal Editors, such as 
ClinicalTrials.gov and EudraCT for posting of study results. Investigators will provide contact 
information to Amicus for the study listing. 
16.7. 
Legal and Financial Aspects 
16.7.1. 
Liability and Insurance 
Liability and insurance provisions for this study are provided in separate agreements. 
16.7.2. 
Financial Disclosure 
Before the start of the study, the investigator will disclose to Amicus any proprietary or financial 
interests he or she might hold in the AT-GTX-501 or Amicus, as outlined in the financial 
disclosure form provided by Amicus. 
The investigator agrees to update this information in case of significant changes during the study 
or within 1 year of its completion. The investigator also agrees that, where required by local laws 
or regulations, Amicus may submit this financial information to domestic or foreign regulatory 
authorities in applications for marketing authorizations. 
Where required by regulation, the investigator will disclose their financial interests to the 
subjects in the ICF (and assent forms, when applicable). Also, the investigator or Amicus, on 
behalf of the investigator, will submit the financial arrangements for the study to the regulatory 
authorities or to the IRB. 
Any sub-investigator to whom the investigator delegates significant study-related responsibilities 
will also provide financial disclosures. 

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17. 
DATA HANDLING AND RECORDKEEPING 
17.1. 
Data Management 
All data and observations will be documented on CRFs by transfer of information from source 
documentation. A study monitor will have access to the data to monitor adherence to the protocol 
and to applicable FDA regulations, and maintenance of adequate and accurate clinical records. A 
CRF will be completed for every subject registered for participation in the study. Each CRF is to 
be completed as information becomes available or within 3 business days of a study visit. 
The study CRFs will be reviewed in detail by the study monitor on a regular basis, for which 
purpose the study monitor will have access to subjects’ medical records, laboratory data, and 
other source documentation. If errors or omissions are found in the course of a data audit, or if 
clarification of data is required, the CRF(s) in question will be corrected by the investigator. Data 
resolution activities may be generated for omissions or clarifications, to be completed, signed, 
dated, and maintained as a part of the CRF. 
A web-based database was created and is managed by authorized users. Paper CRFs are 
transcribed to this web-based database. Data is extracted from source documents (laboratory 
reports, EEG reports, etc) and transferred to the database as well. All source documents will be 
kept in the subject’s research chart. The secured portal features view and edit capability with 
field validations for quality controls, change history attribute, and reporting.  
After completion of the study by an individual subject, the investigator will sign and accept each 
indicated CRF. This signature will indicate that thorough inspection of the data therein has been 
made and will thereby certify the contents of the CRF. 
An external contract research organization (CRO) may also monitor the study in a regular basis 
to make sure the study is conducted in compliance with all regulatory aspects of the protocol. 
17.2. 
Inspection of Records 
Amicus or their designees, will be allowed to conduct site visits to the investigation facilities for 
the purpose of monitoring any aspect of the study. The investigator agrees to allow these 
monitors to inspect the drug storage area, drug stocks of AT-GTX-501, drug accountability 
records, subject medical records and study source documents, and other records relative to study 
conduct. 
During the COVID-19 pandemic, remote monitoring will be implemented. The clinical site will 
remove subject identifiers in the source documents and upload to a secure Sharepoint site. The 
clinical research organization (CRO) will use these source documents as a tool to perform remote 
source document verification of study assessments. 
17.3. 
Retention of Records 
The investigator must obtain approval in writing from Amicus before destruction of any 
study-related records.  
Essential documents are to be retained until at least 2 years after the last approval of a marketing 
application in an ICH region and until there are no pending or contemplated marketing 
applications in an ICH region, or at least 2 years have elapsed since the formal discontinuation of 

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clinical development of AT-GTX-501. However, because of international regulatory 
requirements or country-specific requirements, Amicus may request retention for a longer 
period. The minimum retention time will meet the strictest standard applicable to a particular 
site, as dictated by local laws/regulations, Amicus’ standard operating procedures, and/or 
institutional requirements. 
Prior to any decision regarding the disposal or destruction of study documents, the investigator or 
CRO is to contact Amicus, who may request that the site take alternative actions other than 
disposal or destruction of study documents. 
Essential documents include the following: 
• Signed informed consent documents for all subjects, including all ICFs completed 
following any protocol amendment. When applicable, this also applies to assent 
forms. 
• Subject identification code list, screening log (if applicable), and enrollment log 
Note: European Union legislation requires this list is maintained for a minimum of 
15 years after the completion or discontinuation of the study. 
• Composition of the IRB and record of all communications between the investigator 
and the IRB as well as communications between the investigator and Amicus (or 
CRO) 
• A list of sub-investigators and other appropriately qualified persons to whom the 
investigator has delegated significant study-related duties, together with their roles in 
the study and their signatures 
• Copies of eCRFs and documentation of corrections for all subjects 
• Record of any body fluids or tissue samples retained 
• All other source documents (eg, subject medical, hospital, laboratory records, etc) 
• All other documents as listed in the ICH GCP E6 guidelines (ie, Essential Documents 
for the Conduct of a Clinical Trial) 
Records are to be maintained in a safe and secure location. The records must be easily accessible 
when needed (eg, for an audit or regulatory inspection) and must be available for review in 
conjunction with assessment of the facility, supporting systems, and relevant site personnel. 
Normally, these records will be held in the investigator’s archives. If investigators are unable to 
meet this obligation, they are to ask Amicus for permission to make alternative arrangements. 
Where permitted by local laws/regulations or institutional policy, some or all of the records may 
be maintained in a format other than hard copy (eg, microfiche, scanned, electronic); however, 
caution must be exercised before such action is taken. 
Details of all record retention arrangements are to be documented. The investigator is also to 
notify Amicus of any changes in the archival arrangements, including, but not limited to archival 
of records at an offsite facility or transfer of ownership of the records in the event that the 
investigator is no longer associated with the site. 

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17.4. 
Study and Site Closure 
The end of study is defined as the date of database lock. The study must be closed at the site 
upon completion. 
Upon completion or termination of the study, the study monitor will conduct site closure 
activities with the investigator or study personnel (as appropriate), in accordance with applicable 
regulations, GCP, and Amicus or its designee’s standard operating procedures. Amicus or the 
investigator has the right to close any study site at any time. As much as possible, premature 
closure would occur after mutual consultation. Completion or premature termination of the study 
will be reported by Amicus to any relevant regulatory agency and by Amicus or the investigator 
to the IRB as required by the IRB. 

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18. 
PUBLICATION POLICY 
All information concerning AT-GTX-501 as well as any matter concerning the operation of 
Amicus, such as clinical indications for AT-GTX-501, its composition, methods of manufacture, 
and other scientific data relating to it, that has been provided by Amicus and are unpublished, are 
confidential and remain the sole property of Amicus. The investigator will agree to use the 
information only for the purposes of carrying out this study and for no other purpose unless prior 
written permission from Amicus is obtained. 
Amicus has full ownership of the data collected as part of the study. 
By signing the clinical study protocol and the confidentiality agreement, the investigator agrees 
that the results of the study may be used for the purposes of national and international 
registration, publication, and information for medical and pharmaceutical professionals. The 
authorities will be notified of the investigator’s name, address, qualifications, and extent of 
involvement. 
Amicus will ensure that a final report on the study is prepared with study findings reported in a 
manner that complies with applicable reporting requirements for clinical study results. As 
required by local regulations or the IRB, a summary of the study will be submitted to the 
regulatory authorities and/or to the IRB.  

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19. 
LIST OF REFERENCES  
Arsov, T., K. R. Smith, J. Damiano, S. Franceschetti, L. Canafoglia, C. J. Bromhead, 
E. Andermann, D.F. Vears, P. Cossette, S. Rajagopalan, A. McDougall, V. Sofia, M. Farrell, 
U. Aguglia, A. Zini, S. Meletti, M. Morbin, S. Mullen, F. Andermann, S.E. Mole, M. Bahlo and 
S.F. Berkovic (2011). "Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, 
Caused by Mutations in CLN6." The American Journal of Human Genetics 88(5): 566-573. 
Bucher, T., L. Dubreil, M. A. Colle, M. Maquigneau, J. Deniaud, M. Ledevin, P. Moullier and 
B. Joussemet (2014). "Intracisternal delivery of AAV9 results in oligodendrocyte and motor 
neuron transduction in the whole central nervous system of cats." Gene Ther 21(5): 522-528. 
Canafoglia, L., I. Gilioli, F. Invernizzi, V. Sofia, V. Fugnanesi, M. Morbin, L. Chiapparini, 
T. Granata, S. Binelli, V. Scaioli, B. Garavaglia, N. Nardocci, S. F. Berkovic and 
S. Franceschetti (2015). "Electroclinical spectrum of the neuronal ceroid lipofuscinoses 
associated with CLN6 mutations." Neurology 85(4): 316-324. 
Cotman, S. L., V. Vrbanac, L. A. Lebel, R. L. Lee, K. A. Johnson, L. R. Donahue, A. M. Teed, 
K. Antonellis, R. T. Bronson, T. J. Lerner and M. E. MacDonald (2002). "Cln3(Deltaex7/8) 
knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that 
begins before birth." Hum Mol Genet 11(22): 2709-2721. 
Foust, K. D., D. L. Salazar, S. Likhite, L. Ferraiuolo, D. Ditsworth, H. Ilieva, K. Meyer, 
L. Schmelzer, L. Braun, D. W. Cleveland and B. K. Kaspar (2013). "Therapeutic 
AAV9-mediated suppression of mutant SOD1 slows disease progression and extends survival in 
models of inherited ALS." Mol Ther 21(12): 2148-2159. 
Gao, H., R. M. Boustany, J. A. Espinola, S. L. Cotman, L. Srinidhi, K. A. Antonellis, T. Gillis, 
X. Qin, S. Liu, L. R. Donahue, R. T. Bronson, J. R. Faust, D. Stout, J. L. Haines, T. J. Lerner and 
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