AGLU02905: Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease

This study is complete.

Sponsored By:	Genzyme
Information Provided By:	Genzyme
ClinicalTrials.gov Identifier:	NCT00113035

Purpose

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.

Condition

Pompe Disease

Study Type: Observational

Study Design: Screening, Cross-Sectional, Defined Population, Prospective Study

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)

Further Study Details:

Expected Total Enrollment: 60

Study start: May 2005; Study completion: September 2005

Eligibility

Ages Eligible for Study: 8 Years and above, Genders Eligible for Study: Both

Criteria

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”)

Location Information

California
Tower Hematology/Oncology Medical Group, Beverly Hills, California, 90211, United States

District of Columbia
Children's National Medical Center, Washington, District of Columbia, 20010, United States

Missouri
Washington University Medical Center, St. Louis, Missouri, 63110, United States

New York
Mount Sinai School of Medicine, New York, New York, 10029, United States

Pennsylvania
University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, 15213, United States

More Information

Myozyme® FDA-approved labeling information

Study ID Numbers: AGLU02905
ClinicalTrials.gov Identifier: NCT00113035
Health Authority: United States: Food and Drug Administration