Avalglucosidase alfa: First Approval.

Avalglucosidase alfa (NEXVIAZYME™; avalglucosidase alfa-ngpt) is a hydrolytic lysosomal glycogen-specific recombinant human α-glucosidase product being developed by Sanofi Genzyme (formerly Genzyme Corporation) for the treatment of Pompe disease. Pompe disease is an autosomal recessive lysosomal storage disease caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA), which results in intralysosomal accumulation of glycogen in various tissues. In August 2021, avalglucosidase alfa received its first approval in the USA for the treatment of patients 1 year of age and older with late-onset Pompe disease (GAA deficiency). In July 2021, avalglucosidase alfa received a positive opinion in the EU for long-term enzyme replacement therapy for the treatment of patients with Pompe disease. The drug is under regulatory review in the UK and Japan, and clinical studies are underway in several countries worldwide. This article summarizes the milestones in the development of avalglucosidase alfa leading to this first approval for late-onset Pompe disease.