NCT00077662

A Prospective, Observational Study in Patients With Late-Onset Pompe Disease

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 61 (actual)
• 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, "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 collect prospective, observational data on patients with late-onset Pompe disease. Approximately 60 subjects with late-onset Pompe disease will be enrolled.

Conditions

• Glycogen Storage Disease Type II

Timeline

• Start date: 2004-03-01
• Primary completion: 2005-05-01
• Completion: 2006-01-01
• First posted: 2004-02-12
• Last updated: 2015-05-05

Locations

5 sites across 3 countries: United States, France, Netherlands