Growth and Development Study of Myozyme (Alglucosidase Alfa).

Condition(s) targeted: Pompe Disease; Glycogen Storage Disease Type II (GSD-II); Acid Maltase Deficiency Disease

Intervention: alglucosidase alfa (Biological)

Phase: Phase 4

Status: Recruiting

Sponsored by: Genzyme

Official(s) and/or principal investigator(s):
Medical Monitor, Study Director, Affiliation: Genzyme

Overall contact:
Medical Information, Phone: 800-745-4447, Email: medinfo@genzyme.com

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 Myozyme (alglucosidase alfa) before 1 year of age. Patients will be followed for 10-year period.

Official title: A Long-term Study to Evaluate Growth and Development Outcomes in Patients With Infantile-Onset Pompe Disease Who Are Receiving Myozyme (Alglucosidase Alfa).

Study design: Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Primary outcome:

Long-term growth and development as measured by recumbent length/height, weight and head circumference

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

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

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

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

Change from baseline in Cognitive Development, as measured by changes in the raw and scaled scores of the modified Leiter International Performance Scale - Revised (Leiter-R) scores (starting at 42 months of age)

Summary of Adverse Events

Minimum age: N/A. Maximum age: 24 Months. Gender(s): Both.

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 Myozyme

treatment before 1 year of age), or the patient must be between 1 year and 24 months of age and must have initiated Myozyme treatment prior to turning 1 year of age.

Exclusion Criteria:

- The patient is participating in another clinical study using Myozyme or any

investigational therapy.

Medical Information, Phone: 800-745-4447, Email: medinfo@genzyme.com

Gainesville, Florida, United States; Recruiting

Decatur, Georgia, United States; Recruiting

Detroit, Michigan, United States; Recruiting

Starting date: August 2008
Last updated: October 4, 2012