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

This study has been completed.
Information provided by:
Sanofi Identifier:
First received: June 3, 2005
Last updated: May 4, 2015
Last verified: May 2015
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.

Pompe Disease

Study Type: Observational
Study Design: Time Perspective: Prospective
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)

Resource links provided by NLM:

Further study details as provided by Sanofi:

Estimated Enrollment: 60
Study Start Date: May 2005
Study Completion Date: October 2005
Patients with late onset Pompe Disease


Ages Eligible for Study:   8 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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")
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00113035

United States, California
Tower Hematology/Oncology Medical Group
Beverly Hills, California, United States, 90211
United States, District of Columbia
Children's National Medical Center
Washington, District of Columbia, United States, 20010
United States, Missouri
Washington University Medical Center
St. Louis, Missouri, United States, 63110
United States, New York
Mount Sinai School of Medicine
New York, New York, United States, 10029
United States, Pennsylvania
University of Pittsburgh Medical Center
Pittsburgh, Pennsylvania, United States, 15213
Sponsors and Collaborators
Genzyme, a Sanofi Company
  More Information Identifier: NCT00113035     History of Changes
Other Study ID Numbers: AGLU02905
Study First Received: June 3, 2005
Last Updated: May 4, 2015

Keywords provided by Sanofi:
Glycogen Storage Disease Type II
Pompe Disease
Pompe Disease (Late-Onset)
Glycogen Storage Disease Type II (GSD-II)
Acid Maltase Deficiency
Glycogenosis 2

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
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
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases processed this record on April 28, 2017