Growth and Development Study of Alglucosidase Alfa.
Study Details
Study Description
Brief Summary
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective of this study is to evaluate the long-term growth and development of patients with infantile-onset Pompe disease with alglucosidase alfa before 1 year of age. Patients will be followed for 10-year period.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Phase 4 |
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Experimental: alglucosidase alfa
|
Biological: alglucosidase alfa
Intravenous (IV) infusion: 20mg/kg every 2 weeks
|
Outcome Measures
Primary Outcome Measures
- Long-term growth and development as measured by recumbent length/height, weight and head circumference [Every 3 Months for up to 10 years]
- Change from baseline in motor development and function, as measured by changes in the motor subscale of the Bayley Scales of Infant and Toddler Development (Bayley-III) (up to 42 months of age) at 10 years [Up to 10 years]
- Change from baseline in motor development and function, as measured by changes in the total score of the Gross Motor Function Measure (GMFM-88) at 10 years [Up to 10 years]
- Change from baseline in the raw scores, normative standard scores and scaled scores for the Functional Skills Mobility and Self-Care domains of the Pompe Pediatric Evaluation of Disability Inventory (Pompe PEDI) at 10 years [Up to 10 years]
- Change from baseline in Cognitive Development, as measured by changes in the raw scores, scaled scores and composite scores for the cognitive and language subscales of the Bayley Scales of Infant and Toddler Development (Bayley-III) at 10 years [Up to 10 years]
- Change from baseline in Cognitive Development, as measured by changes in raw and scaled subscale scores and composite scores and percentiles of Brief Scale IQ test of Leiter-R and/or Nonverbal IQ test of Leiter-3 (starting at 42 months of age) [Up to 10 years]
- Summary of Adverse Events [Up to 10 years]
Eligibility Criteria
Criteria
Inclusion Criteria:
-
The patient or patient's legal guardian must provide signed, informed consent prior to performing any study-related procedures;
-
The patient must have a confirmed diagnosis of Pompe disease as determined by deficient endogenous acid alpha-glucosidase (GAA) activity or GAA mutation analysis; and
-
The patient must be <1 year of age at time of study enrollment (and receive alglucosidase alfa treatment before 1 year of age), or the patient must be between 1 year and 24 months of age and must have initiated alglucosidase alfa treatment prior to turning 1 year of age.
Exclusion Criteria:
- The patient is participating in another clinical study using alglucosidase alfa or any investigational therapy.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Gainesville | Florida | United States | ||
| 2 | Decatur | Georgia | United States | ||
| 3 | Detroit | Michigan | United States |
Sponsors and Collaborators
- Genzyme, a Sanofi Company
Investigators
- Study Director: Medical Monitor, Genzyme, a Sanofi Company
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- AGLU03606
- LTS12869
- U1111-1163-0368