Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease
Primary Purpose
Pompe Disease, Glycogen Storage Disease Type II, Acid Maltase Deficiency Disease
Status
Completed
Phase
Phase 2
Locations
United States
Study Type
Interventional
Intervention
recombinant human acid alpha-glucosidase (rhGAA)
Sponsored by
About this trial
This is an interventional treatment trial for Pompe Disease
Eligibility 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 (-)
Sites / Locations
- Duke University Medical Center
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00025896
First Posted
October 31, 2001
Last Updated
November 12, 2014
Sponsor
Genzyme, a Sanofi Company
1. Study Identification
Unique Protocol Identification Number
NCT00025896
Brief Title
Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease
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 Type
Interventional
2. Study Status
Record Verification Date
November 2014
Overall Recruitment Status
Completed
Study Start Date
May 2001 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
September 2002 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Genzyme, a Sanofi Company
4. Oversight
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Pompe Disease, Glycogen Storage Disease Type II, Acid Maltase Deficiency Disease, Glycogenosis 2
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
8 (false)
8. Arms, Groups, and Interventions
Intervention Type
Drug
Intervention Name(s)
recombinant human acid alpha-glucosidase (rhGAA)
10. Eligibility
Sex
All
Accepts Healthy Volunteers
No
Eligibility 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 (-)
Facility Information:
Facility Name
Duke University Medical Center
City
Durham
State/Province
North Carolina
ZIP/Postal Code
27710
Country
United States
12. IPD Sharing Statement
Citations:
PubMed Identifier
19775921
Citation
Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003.
Results Reference
derived
Learn more about this trial
Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease
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