Summary of Clinical Use

Approved as enzyme replacement therapy (ERT) for the treatment of adults and children with autosomal recessive glycogen storage disease type II (Pompe’s disease), which results from deficiency of the enzyme acid α-glucosidase (GAA). This rare disease causes lysosomal accumulation of glycogen. The pathological effects include progressive myopathy, particularly in the heart and skeletal muscles, and liver and nervous system damage. The EMA approval has orphan designation.

Mechanism Of Action and Pharmacodynamic Effects

Restores the normal break down of glycogen and thereby improves the overall outcome of affected patients.