Pompe disease is characterized by a deficiency of acid α-glucosidase (GAA). The GAA enzyme degrades lysosomal glycogen, and insufficient GAA activity causes glycogen to accumulate in various tissues.

11.3. The Advisory Committee recommended that avalglucosidase alfa for the treatment of late onset Pompe disease be funded with a medium priority.

BACKGROUND: Pompe disease is an autosomal recessive disorder of glycogen metabolism that is characterized by a deficiency of the lysosomal acid alpha-glucosidase. Enzyme replacement therapy for ...

The drug is a recombinant version of the enzyme alpha-glucosidase, which is deficient in Pompe disease, leading to the accumulation of glycogen to toxic levels that damage muscle cells.