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

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)

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.

Study Overview

• Status: Completed
• Conditions: Pompe Disease

• Study Type: Observational
• Enrollment: 60

Contacts and Locations

Study Locations

• United States
  • California
    • Beverly Hills, California, United States, 90211
      • Tower Hematology/Oncology Medical Group
  • District of Columbia
    • Washington, District of Columbia, United States, 20010
      • Children's National Medical Center
  • Missouri
    • St. Louis, Missouri, United States, 63110
      • Washington University Medical Center
  • New York
    • New York, New York, United States, 10029
      • Mount Sinai School of Medicine
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15213
      • University of Pittsburgh Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Patients with late onset Pompe Disease

Collaborators and Investigators

• Sponsor: Genzyme, a Sanofi Company

Study record dates

Study Major Dates

• Study Start: May 1, 2005
• Study Completion (Actual): October 1, 2005

Study Registration Dates

• First Submitted: June 3, 2005
• First Submitted That Met QC Criteria: June 3, 2005
• First Posted (Estimate): June 6, 2005

Study Record Updates

• Last Update Posted (Estimate): May 5, 2015
• Last Update Submitted That Met QC Criteria: May 4, 2015
• Last Verified: May 1, 2015

More Information

Terms related to this study

• Keywords: Glycogen Storage Disease Type II; GSD-II; Pompe Disease; Glycogenosis 2; Glycogen Storage Disease Type II (GSD-II); Acid Maltase Deficiency; Pompe Disease (Late-Onset)
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Glycogen Storage Disease Type II
• Other Study ID Numbers: AGLU02905