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Trial record 1 of 2 for:    myozyme | Completed Studies | pompe | Start date from 01/01/2001 to 01/01/2003
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Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease

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. Identifier: NCT00025896
Recruitment Status : Completed
First Posted : November 1, 2001
Last Update Posted : November 13, 2014
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company )

Brief Summary:
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 or disease Intervention/treatment Phase
Pompe Disease Glycogen Storage Disease Type II Acid Maltase Deficiency Disease Glycogenosis 2 Drug: recombinant human acid alpha-glucosidase (rhGAA) Phase 2

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Study Type : Interventional  (Clinical Trial)
Enrollment : 8 participants
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
Study Start Date : May 2001
Actual Study Completion Date : September 2002

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
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 (-)

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 identifier (NCT number): NCT00025896

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United States, North Carolina
Duke University Medical Center
Durham, North Carolina, United States, 27710
Sponsors and Collaborators
Genzyme, a Sanofi Company
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Genzyme, a Sanofi Company Identifier: NCT00025896    
Other Study ID Numbers: AGLU-001-00
First Posted: November 1, 2001    Key Record Dates
Last Update Posted: November 13, 2014
Last Verified: November 2014
Additional relevant MeSH terms:
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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