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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.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00025896
First Posted: November 1, 2001
Last Update Posted: November 13, 2014
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company )
  Purpose
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: None (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
  Eligibility

Information from the National Library of Medicine

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

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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00025896


Locations
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 ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Genzyme, a Sanofi Company
ClinicalTrials.gov Identifier: NCT00025896     History of Changes
Other Study ID Numbers: AGLU-001-00
First Submitted: October 31, 2001
First Posted: November 1, 2001
Last Update Posted: November 13, 2014
Last Verified: November 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
Malnutrition
Nutrition Disorders