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

Pompe Disease Clinical Trial

Official title:

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)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00113035
• Other study ID #: AGLU02905
• Status: Completed
• Phase: N/A
• First received: June 3, 2005
• Last updated: May 4, 2015
• Start date: May 2005
• Est. completion date: October 2005

Study information

• Verified date: May 2015
• Source: Sanofi
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Food and Drug Administration
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 60
• Est. completion date: October 2005
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 8 Years and older

Eligibility

Inclusion Criteria:

• Must provide written informed consent prior to any study-related procedures being performed

• Clinical presentation consistent with late-onset Pompe disease, or a current clinical diagnosis of late-onset Pompe disease

• Must be greater than or equal to 8 years of age

• Must be able to ambulate (use of assistive devices, such as a walker, cane or crutches, is permitted)

Exclusion Criteria:

• Requires the use of invasive ventilatory support

• Requires the use of noninvasive ventilatory support while awake and in an upright position

• Use of any investigational product within 30 days prior to study enrollment

• Unwillingness to comply with protocol requirements

• Has clinically significant organic disease, unstable medical condition, serious or intercurrent illness

• Is pregnant or lactating

• Has participated in the Prospective Observational Study in Patients with Late-Onset Pompe Disease (AGLU02303, "LOPOS")

Study Design

Time Perspective: Prospective

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Pompe Disease

Locations

Country	Name	City	State
United States	Tower Hematology/Oncology Medical Group	Beverly Hills	California
United States	Mount Sinai School of Medicine	New York	New York
United States	University of Pittsburgh Medical Center	Pittsburgh	Pennsylvania
United States	Washington University Medical Center	St. Louis	Missouri
United States	Children's National Medical Center	Washington	District of Columbia

Sponsors (1)

Lead Sponsor	Collaborator
Genzyme, a Sanofi Company

Country where clinical trial is conducted

United States,