Clinical trial NCT00486889: Growth and Development Study of Alglucosidase Alfa
Official title: A Long-term Study to Evaluate Growth and Development Outcomes in Patients With Infantile-Onset Pompe Disease Who Are Receiving Alglucosidase Alfa
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE4
Conditions: Pompe Disease
Glycogen Storage Disease Type II (GSD-II)
Acid Maltase Deficiency Disease
Keywords: Glycogenesis 2
Lead sponsor: Sanofi
Sponsor class: INDUSTRY
First posted: 2007-06-15
Enrollment: 12
Sex: ALL
Maximum age (years): 24
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief summary: Pompe disease (also known as glycogen storage disease Type II) is a rare autosomal recessive metabolic muscle disease caused by the deficiency of acid α glucosidase (GAA), an enzyme that degrades lysosomal glycogen. As opposed to the exclusively cytoplasmic accumulation of glycogen that occurs in other glycogen storage disorders, Pompe disease is characterized by organelle bound (lysosomal) and extra-lysosomal accumulation of glycogen in many body tissues, ultimately leading to multisystemic pathology. The overall objective of this study was to evaluate the long-term growth and development of participants with infantile-onset Pompe disease with alglucosidase alfa before 1 year of age. Participants were to be followed for a 10-year period.


Eligibility criteria: Inclusion Criteria:

* The participant or participant's legal guardian must have provided signed, informed consent prior to performing any study-related procedures.
* The participant must have had a confirmed diagnosis of Pompe disease as determined by deficient endogenous GAA activity or GAA mutation analysis.
* The participant must be less than (\<) 1 year of age at time of study enrollment (and received alglucosidase alfa treatment before 1 year of age), or the participant must be between 1 year and 24 months of age and must have had initiated alglucosidase alfa treatment prior to turning 1 year of age.

Exclusion Criteria:

* The participant was participating in another clinical study using alglucosidase alfa or any investigational therapy.

Primary outcomes:
measure: Recumbent Height/Length of Participants in Centimeters (cm)
timeFrame: Participants 1-12:Baseline, Participant1: Wk 52, Participant2: Wk82, Participants 3-4: Wk208, Participant5: Wk12, Participant6: Wk365, Participant7: Wk64, Participant8:Wk156, Participant9:Wk364, Participant10:Wk52, Participant11:Wk156, Participant12:Wk520
measure: Body Weight of Participants in Kilograms (kg)
timeFrame: Participant1-12:Baseline, Participant1:Wk 52, Participant2:Wk82, Participant3: Wk208,Participant4:Wk364,Participant5:Wk12,Participant6:Wk365,Participant7:Wk64,Participant8:Wk156,Participant9:Wk364,Participant10:Wk52,Participant11:Wk156,Participant12:Wk520
measure: Head Circumference of Participants in Centimeters (cm)
timeFrame: Participants1-12:Baseline, Participant1:Week(Wk)52, Participant2:Wk82, Participants3and4:Wk208, Participant5:Wk12, Participant6:Wk365, Participant7:Wk64, Participant8:Wk156, Participant9:Wk312, Participant10:Wk52, Participant11:Wk156, Participant12:Wk468
measure: Motor Subscale of Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) Normative Composite Scores
timeFrame: Participants 1-12: Baseline, Participant-1: Week 52, Participant-2: Week 83, Participants 3 and 4: Week 104, Participant-6: Week 78, Participants 7 and 8: Week 26, Participant-9: Week 156, Participants 10 and 11: Week 26, Participant-12: Week 104
measure: Gross Motor Function Measure (GMFM-88) Total Scores
timeFrame: Participants 1-12: Baseline, Participants 1 and 2: Wk 52, Participants 3 and 4: Wk 208, Participant-6: Wk 359, Participant-7: Wk 26, Participant-8: Wk 156, Participant-9: Wk 312, Participant-11: Wk 156, Participant-12: Wk416
measure: Pompe Pediatric Evaluation of Disability Inventory (Pompe PEDI) Scaled Scores
timeFrame: Participants1-12:Baseline, Participants 1 and 2: Wk 52, Participants 3 and 4: Wk 208, Participant-6: Wk 359, Participant-7: Wk 52, Participant-8: Wk156, Participant-9: Wk 312, Participant-10: Wk 26, Participant-11: Wk 156, Participant-12: Wk 416
measure: Cognitive and Language Subscales of Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) Normative Composite Scores
timeFrame: Participants 1-12: Baseline, Participant-1: Week 52, Participant-2: Week 83, Participants 3 and 4: Week 104, Participant-6: Week 78, Participants 7 and 8: Week 26, Participant-9: Week 156, Participants 10 and 11:Week 26, Participant-12: Week 104
measure: Brief Intelligence Quotient (IQ) Score of the Leiter International Performance Scale-Revised (Leiter-R)
timeFrame: Participants 1 and 2: Week 156, Participant-3: Week 260, Participant-4: Week 156, Participant-5: Week 208
measure: Nonverbal Intelligence Quotient (IQ) Score of Leiter International Performance Scale - 3rd Edition (Leiter-3)
timeFrame: Participant-1: Week 156, Participant-2: Week 312, Participant-3: Week 416
Secondary outcomes:
measure: Number of Participants With Treatment-emergent Adverse Events (TEAEs) and Treatment-emergent Serious Adverse Events (TESAEs)
timeFrame: From Baseline up to 13.25 years
Other outcomes:
Locations:
city: Gainesville
country: United States
state: Florida
city: Decatur
country: United States
state: Georgia
city: Detroit
country: United States
state: Michigan
Study officials:
affiliation: Genzyme, a Sanofi Company
name: Medical Monitor
role: STUDY_DIRECTOR
References: