Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease
Status:
Completed
Trial end date:
2002-09-01
Target enrollment:
Participant gender:
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.