recombinant acid alpha-glucosidase

Recombinant acid alpha-glucosidase is an enzyme replacement therapy designed to treat Pompe disease, an autosomal recessive muscle-wasting disorder. This condition is caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase. The recombinant form of the enzyme aims to replace the missing or deficient enzyme, thereby improving cardiac function, skeletal muscle function, and histological appearance of skeletal muscle in affected patients. In a phase II clinical trial, the therapy was generally well-tolerated and showed overall improvement in patients with classical infantile Pompe disease.

Other names

rhGAA