Phase 4
N=12
Growth and Development Study of Alglucosidase Alfa
Pompe Disease · Glycogen Storage Disease Type II (GSD-II) · Acid Maltase Deficiency Disease
Bottom Line
View on ClinicalTrials.gov: NCT00486889 ↗Enrolled (actual)
12
Serious AEs
75.0%
Results posted
Aug 2022
Primary outcome: Primary: Recumbent Height/Length of Participants in Centimeters (cm) — 80.4; 93.8; 67.7; 91.1 cm
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 4
- Interventions
- alglucosidase alfa (Biological)
- Age
- Pediatric
- Sex
- All
- Sponsor
- Genzyme, a Sanofi Company
- Primary completion
- Nov 2021
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Recumbent Height/Length of Participants in Centimeters (cm) |
80.4; 93.8; 67.7; 91.1; 69.1; 107.5 | — |
| PRIMARY Body Weight of Participants in Kilograms (kg) |
10.0; 13.8; 8.0; 13.1; 6.5; 17.4 | — |
| PRIMARY Head Circumference of Participants in Centimeters (cm) |
45.3; 48.1; 44.0; 49.3; 43.4; 52.8 | — |
| PRIMARY Motor Subscale of Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) Normative Composite Scores |
94; 94; 94; 91; 46; 46 | — |
| PRIMARY Gross Motor Function Measure (GMFM-88) Total Scores |
27.98; 59.65; 32.42; 91.52; 7.16; 2.75 | — |
| PRIMARY Pompe Pediatric Evaluation of Disability Inventory (Pompe PEDI) Scaled Scores |
40.62; 50.15; 0; 20.1; 39.68; 56.31 | — |
| PRIMARY Cognitive and Language Subscales of Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) Normative Composite Scores |
90; 100; 85; 100; 65; 55 | — |
| PRIMARY Brief Intelligence Quotient (IQ) Score of the Leiter International Performance Scale-Revised (Leiter-R) |
54; 50; 100; 98; 97 | — |
| PRIMARY Nonverbal Intelligence Quotient (IQ) Score of Leiter International Performance Scale - 3rd Edition (Leiter-3) |
87; 78; 70 | — |
| SECONDARY Number of Participants With Treatment-emergent Adverse Events (TEAEs) and Treatment-emergent Serious Adverse Events (TESAEs) |
11; 9 | — |
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.
Data sourced from ClinicalTrials.gov (NCT00486889). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.