NCT00059280

A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease

An Open-label, Multicenter, Multinational Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of Recombinant Human Acid Alpha-glucosidase Treatment in Patients Less Than 6 Months Old With Infantile-onset Pompe Disease

• Status: Completed
• Phase: Phase 2 / Phase 3
• Study type: Interventional
• Enrollment: 16 (actual)
• Sponsor: Genzyme, a Sanofi Company · Industry
• Sex: All
• Age: 26 Weeks
• Healthy volunteers: Not accepted

Summary

Pompe disease (also known as glycogen storage disease type II, "GSD-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. 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 Pompe disease. Patients diagnosed with infantile-onset Pompe disease who are less than or equal to 6 months old will be studied.

Conditions

• Glycogen Storage Disease Type II

Interventions

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

Timeline

• Start date: 2003-04-01
• Primary completion: 2005-06-01
• Completion: 2005-09-01
• First posted: 2003-04-23
• Last updated: 2014-02-05

Locations

8 sites across 5 countries: United States, France, Israel, Taiwan, United Kingdom