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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.
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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
Pompe DiseaseGlycogen Storage Disease Type IIAcid Maltase DeficiencyDiseaseGlycogenosis 2
Drug: recombinant human acid alpha-glucosidase (rhGAA)
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
Study Completion Date
Resource links provided by the National Library of Medicine
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Ages Eligible for Study:
Child, Adult, Senior
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Clinical diagnosis of Classical Infantile Pompe Disease
endogenous GAA activity < 1.0%
ability to comply with the clinical protocol which will require extensive clinical evaluations
major congenital abnormality
any other medical condition that could potentially decrease survival