Alglucosidase alfa: first available treatment for Pompe disease

Marc Nicolino

Alglucosidase alfa is a recombinant form of acid α-glucosidase that catalyses the complete hydrolysis of its natural substrate, glycogen. It is postulated that administration of alglucosidase alfa will result in clearance of glycogen from lysosomes and will improve muscle function in patients affected with Pompe disease. This review describes the main steps in the history of enzyme-replacement therapy in this specific lysosomal storage disorder and discusses the characteristics of the medicinal product as well as the evaluation of response to therapy.