Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease
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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 Deficiency DiseaseGlycogenosis 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 :
Actual Study Completion Date :
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Ages Eligible for Study:
Child, Adult, Older Adult
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