Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease
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
1 other identifier
interventional
8
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for phase_2
Started May 2001
Shorter than P25 for phase_2
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
May 1, 2001
CompletedFirst Submitted
Initial submission to the registry
October 31, 2001
CompletedFirst Posted
Study publicly available on registry
November 1, 2001
CompletedStudy Completion
Last participant's last visit for all outcomes
September 1, 2002
CompletedNovember 13, 2014
November 1, 2014
October 31, 2001
November 12, 2014
Conditions
Interventions
Eligibility Criteria
You may qualify if:
- 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
You may not qualify if:
- respiratory insufficiency
- cardiac failure
- major congenital abnormality
- any other medical condition that could potentially decrease survival
- CRIM (-)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Duke University Medical Center
Durham, North Carolina, 27710, United States
Related Publications (1)
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.
PMID: 19775921DERIVED
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- interventional
- Phase
- phase 2
- Allocation
- NON RANDOMIZED
- Masking
- NONE
- Purpose
- TREATMENT
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
October 31, 2001
First Posted
November 1, 2001
Study Start
May 1, 2001
Study Completion
September 1, 2002
Last Updated
November 13, 2014
Record last verified: 2014-11