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

NCT00113035 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 60

Last updated 2015-05-05

No results posted yet for this study

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

Sponsors & Collaborators

  • Genzyme, a Sanofi Company

    lead INDUSTRY

Eligibility

Min Age
8 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2005-05-31
Completion
2005-10-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00113035 on ClinicalTrials.gov