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A Prospective, Observational Study in Patients With Late-Onset Pompe Disease

This study has been completed.
Information provided by:
Sanofi Identifier:
First received: February 10, 2004
Last updated: May 4, 2015
Last verified: May 2015

Pompe disease (also known as glycogen storage disease type II, "GSD-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.

This study is being conducted to collect prospective, observational data on patients with late-onset Pompe disease. Approximately 60 subjects with late-onset Pompe disease will be enrolled.

Glycogen Storage Disease Type II

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective, Observational Study in Patients With Late-Onset Pompe Disease

Resource links provided by NLM:

Further study details as provided by Sanofi:

Enrollment: 61
Study Start Date: March 2004
Study Completion Date: January 2006
Primary Completion Date: May 2005 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   8 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Late-Onset Patients diagnosed with Pompe Disease

Inclusion Criteria:

  • The patient must provide signed, informed consent prior to performing any study-related procedures.
  • The patient must have a diagnosis of Pompe disease based upon: a) documented marked deficiency of GAA activity by muscle biopsy, skin fibroblasts, or leukocytes OR b) documented GAA gene mutation by deoxyribonucleic acid (DNA) analysis
  • The patient must be greater than 8 years of age if enrolled at a site in the U.S. and greater than 18 years of age if enrolled at a site in Europe
  • The patient must have documented onset of symptoms of Pompe disease after 12 months of age
  • The patient must have at least 3 testable muscle groups in the arms and 3 testable muscle groups in the legs using quantitative muscle testing
  • The patient must be able to perform pulmonary and muscle function testing in the supine position
  • The patient must be able to provide reproducible muscle and pulmonary function test results within 10% of each other performed on Day 1 and Day 2 of the Screening/Baseline visit and forced vital capacity measurements within 10% of each other performed in the upright position on Day 1 and Day 2 of the Screening/Baseline visit
  • The patient must have the ability to comply with the clinical protocol

Exclusion Criteria:

  • The patient is unable to ambulate (use of assistive devices, such as walker, cane, crutches, is permitted);
  • The patient requires the use of invasive ventilatory support.
  • The patient requires the use of noninvasive ventilatory support during waking hours.
  • The patient has received enzyme replacement therapy with acid alpha-glucosidase from any source
  • The patient has received an investigational drug within 30 days prior to study enrollment, or is currently enrolled in another study which involves clinical evaluations
  • The patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, in the opinion of the Investigator, may significantly interfere with study compliance including all prescribed evaluations and follow-up activities
  • The patient has a major congenital abnormality
  • For female patients only, the patient is pregnant or lactating, or is unwilling to practice birth control methods during the course of the study
  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: NCT00077662

United States, District of Columbia
Children's Hospital Medical Center
Washington, District of Columbia, United States, 20010
United States, Missouri
School of Medicine, Campus Box 8111
St. Louis, Missouri, United States, 63110
United States, Washington
Children's Hospital & Regional Medical Center
Seattle, Washington, United States, 98105
Institut de Myologie, Groupe Hospitalier Pitie-Salpetriere, Batimant Babinski
Paris 75651, France, CEDEX 13
Universitair Medisch Centrum
Utrecht, Netherlands, 3584CX
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Medical Monitor Genzyme, a Sanofi Company
  More Information

Responsible Party: Medical Monitor, Genzyme Corporation Identifier: NCT00077662     History of Changes
Other Study ID Numbers: AGLU02303
Study First Received: February 10, 2004
Last Updated: May 4, 2015

Keywords provided by Sanofi:
Pompe Disease
Glycogen Storage Disease Type II
Acid Maltase Deficiency Disease
Glycogenosis 2

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Glycogen Storage Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors processed this record on September 21, 2017