Clinical trial NCT04273243: Long-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer
Official title: Long-Term Follow-Up of AT-GTX-501 scAAV9 Gene Transfer in Subjects With CLN6 Batten Disease
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: CLN6
Batten Disease
Keywords: Neuronal ceroid lipofuscinosis
NCL
Gene Transfer
vLINCL6
Lead sponsor: Amicus Therapeutics
Sponsor class: INDUSTRY
First posted: 2020-02-18
Enrollment: 10
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The subject population in this Long-Term Follow Up study consists of subjects with CLN6 Batten disease who previously received AT-GTX-501 in the preceding study (AT-GTX-501-01).

Brief summary: This is a long-term safety and efficacy study in subjects with CLN6 Batten disease who previously received a single intrathecal administration of AT-GTX-501.

Detailed description: This is a long-term safety and efficacy study in subjects with CLN6 Batten disease (also know as variant late infantile neuronal ceroid lipofuscinosis associated with mutation(s) in the CLN6 gene \[vLINCL6\] disease),who previously received a single intrathecal administration of AT-GTX-501. The assessments described in this long-term follow-up (LTFU) study (AT-GTX-501-02) are performed following and in addition to the initial 2 years of post-treatment assessments in the treatment study (AT-GTX-501-01). In this LTFU study, subjects complete safety and efficacy assessments throughout the study's 3-year duration. Combining the duration of the initial treatment study and this LTFU study, the overall duration reflects a follow-up period up-to 5 years since gene transfer via AT-GTX-501.

The primary outcome for this study is to assess the long-term safety of AT-GTX-501 in subjects with CLN6 Batten disease.

The secondary outcome measure of this study is to assess the long-term efficacy of AT-GTX-501 in subjects with CLN6 Batten disease.

Eligibility criteria: Inclusion Criteria:

* Subject received AT-GTX-501 (scAAV9.CB.CLN6) in the study "Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9."
* Subject completed or prematurely discontinued from the study "Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9."
* Subject has a legally authorized representative who has provided written informed consent and authorization for use and disclosure of personal health information or research-related health information.

Exclusion Criteria:

* None

Primary outcomes:
measure: Long-term safety assessment based on Adverse Events (AEs)
timeFrame: up to 3 years
Secondary outcomes:
measure: Hamburg Scale
timeFrame: up to 3 years
Other outcomes:
Locations:
city: Columbus
country: United States
facility: Nationwide Children's Hosptial
state: Ohio
Study officials:
affiliation: Amicus Therapeutics
name: Clinical Research
role: STUDY_DIRECTOR
References: