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

This study has been completed.
Sponsor:
Information provided by:
Sanofi
ClinicalTrials.gov Identifier:
NCT00025896
First received: October 31, 2001
Last updated: January 22, 2014
Last verified: January 2014
  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
Endpoint Classification: Safety/Efficacy Study
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:

Estimated Enrollment: 8
Study Start Date: May 2001
Estimated Study Completion Date: November 2002
  Eligibility

Genders Eligible for Study:   Both
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
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 ClinicalTrials.gov identifier: 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

No publications provided by Sanofi

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Medical Monitor, Genzyme Corporation
ClinicalTrials.gov Identifier: NCT00025896     History of Changes
Other Study ID Numbers: AGLU-001-00
Study First Received: October 31, 2001
Last Updated: January 22, 2014
Health Authority: United States: Food and Drug Administration

Additional relevant MeSH terms:
Deficiency Diseases
Glycogen Storage Disease Type II
Glycogen Storage Disease
Malnutrition
Nutrition Disorders
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

ClinicalTrials.gov processed this record on July 22, 2014