Status:
COMPLETED
A Prospective, Observational Study in Patients With Late-Onset Pompe Disease
Lead Sponsor:
Genzyme, a Sanofi Company
Conditions:
Glycogen Storage Disease Type II
Eligibility:
All Genders
8+ years
Brief Summary
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 bo...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
March 1 2004
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
January 1 2006
Estimated Enrollment :
61 Patients enrolled
Trial Details
Trial ID
NCT00077662
Start Date
March 1 2004
End Date
January 1 2006
Last Update
May 5 2015
Active Locations (5)
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1
Children's Hospital Medical Center
Washington D.C., District of Columbia, United States, 20010
2
School of Medicine, Campus Box 8111
St Louis, Missouri, United States, 63110
3
Children's Hospital & Regional Medical Center
Seattle, Washington, United States, 98105
4
Institut de Myologie, Groupe Hospitalier Pitie-Salpetriere, Batimant Babinski
Paris, France, CEDEX 13