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

NCT00113035 | Completed

• 1 other identifier: AGLU02905
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 5

Brief 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

Keywords

Glycogen Storage Disease Type II; GSD-II; Pompe Disease; Pompe Disease (Late-Onset); Glycogen Storage Disease Type II (GSD-II); Acid Maltase Deficiency; Glycogenosis 2

Study Arms (1)

Patients with late onset Pompe Disease

Eligibility Criteria

• Age: 8 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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)

You may not qualify if:

• 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")

Sponsors & Collaborators

• Genzyme, a Sanofi Company: lead

Study Sites (5)

Tower Hematology/Oncology Medical Group

Beverly Hills, California, 90211, United States

Location

Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States

Location

Washington University Medical Center

St Louis, Missouri, 63110, United States

Location

Mount Sinai School of Medicine

New York, New York, 10029, United States

Location

University of Pittsburgh Medical Center

Pittsburgh, Pennsylvania, 15213, United States

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY

Study Record Dates

• First Submitted: June 3, 2005
• First Posted: June 6, 2005
• Study Start: May 1, 2005
• Study Completion: October 1, 2005
• Last Updated: May 5, 2015

Record last verified: 2015-05

Locations

US (5)