pompe disease

Pompe disease is a rare lysosomal storage disorder caused by acid alpha-glucosidase deficiency, leading to glycogen accumulation in muscle and progressive respiratory and motor decline. Standard enzyme replacement therapy with alglucosidase alfa has been available since 2006; next-generation ERT cipaglucosidase alfa combined with miglustat provides superior tissue targeting and improved outcomes. Gene therapy trials offer the prospect of a one-time curative intervention.