NCT00113035

Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease

Screening Protocol to Evaluate Acid Alpha Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease for Potential Inclusion in Future Clinical Studies With Myozyme (Alglucosidase Alfa)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 60 (planned)
• Sponsor: Genzyme, a Sanofi Company · Industry
• Sex: All
• Age: 8 Years
• Healthy volunteers: Not accepted

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 primary objective of this study is to identify potential candidates for future clinical studies in Pompe disease.

Conditions

• Pompe Disease

Timeline

• Start date: 2005-05-01
• Completion: 2005-10-01
• First posted: 2005-06-06
• Last updated: 2015-05-05

Locations

5 sites across 1 country: United States