NCT00053573

rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)

An Open-Label, Multicenter, Multinational, Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of rhGAA Treatment in Patients Greater Than 6 Months and Less Than or Equal to 36 Months Old With Infantile-Onset GSD-II

• Status: Completed
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 20 (actual)
• Sponsor: Genzyme, a Sanofi Company · Industry
• Sex: All
• Age: 6 Months – 36 Months
• Healthy volunteers: Not accepted

Summary

Glycogen Storage Disease Type II ("GSD-II"; also known as Pompe disease) 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 GSD-II, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. This study is being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for GSD-II. Patients diagnosed with infantile-onset GSD-II who are greater than 6 months old, but less than or equal to 36 months old will be studied.

Conditions

• Glycogen Storage Disease Type II
• Pompe Disease
• Acid Maltase Deficiency Disease
• Glycogenosis 2

Interventions

Type	Name	Description
BIOLOGICAL	Myozyme	20 mg/kg to 40 mg/kg qow

Timeline

• Start date: 2003-02-01
• Primary completion: 2006-07-01
• Completion: 2006-11-01
• First posted: 2003-02-03
• Last updated: 2014-02-05

Locations

6 sites across 4 countries: United States, France, Israel, United Kingdom