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Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease

This study has been completed.
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company ) Identifier:
First received: October 31, 2001
Last updated: November 12, 2014
Last verified: November 2014
Pompe disease 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 infants with severe cases of Pompe disease (called Classical Infantile Pompe disease), an excessive amount of glycogen accumulates and is stored in various tissues, especially heart, skeletal muscle, and liver, which prevents their normal function. This study being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for Pompe disease. Patients diagnosed with Classical Infantile Pompe disease who have a small, but inactive, amount of natural GAA enzyme present in their bodies (called Cross-Reacting Immunologic Material-Positive or "CRIM (+)" patients), will be studied.

Condition Intervention Phase
Pompe Disease Glycogen Storage Disease Type II Acid Maltase Deficiency Disease Glycogenosis 2 Drug: recombinant human acid alpha-glucosidase (rhGAA) Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: A Prospective Multinational, Multicenter, Clinical Trial of the Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase (rhGAA) in Cross-Reacting Immunologic Material-Positive Patients With Classical Infantile Pompe Disease

Resource links provided by NLM:

Further study details as provided by Sanofi ( Genzyme, a Sanofi Company ):

Estimated Enrollment: 8
Study Start Date: May 2001
Study Completion Date: September 2002

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Clinical diagnosis of Classical Infantile Pompe Disease
  • endogenous GAA activity < 1.0%
  • cardiomegaly
  • cardiomyopathy
  • CRIM (+)
  • ability to comply with the clinical protocol which will require extensive clinical evaluations

Exclusion Criteria:

  • respiratory insufficiency
  • cardiac failure
  • major congenital abnormality
  • any other medical condition that could potentially decrease survival
  • CRIM (-)
  Contacts and Locations
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Please refer to this study by its identifier: NCT00025896

United States, North Carolina
Duke University Medical Center
Durham, North Carolina, United States, 27710
Sponsors and Collaborators
Genzyme, a Sanofi Company
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Genzyme, a Sanofi Company Identifier: NCT00025896     History of Changes
Other Study ID Numbers: AGLU-001-00
Study First Received: October 31, 2001
Last Updated: November 12, 2014

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Glycogen Storage Disease
Deficiency Diseases
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
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Nutrition Disorders processed this record on August 16, 2017