Sanofi to present Phase 3 results of avalglucosidase alfa in late-onset Pompe disease patients

The U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy designation status to avalglucosidase alfa for the treatment of patients with a confirmed diagnosis of Pompe disease. Breakthrough Therapy designation serves to expedite the development and review of drugs that target serious or life-threatening conditions. Drugs qualifying for this designation must show preliminary clinical evidence of a substantial improvement on a clinically significant endpoint over available therapies, or over placebo if there is no available therapy.

Pompe disease is caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA), resulting in a build-up of glycogen in muscles, including the proximal muscles and the diaphragm, and eventually causing progressive and irreversible muscle damage. This rare disease affects an estimated 50,000 people worldwide and can manifest at any age from infancy to late adulthood.

The goal of ERT for Pompe disease is to deliver enzyme into the lysosomes within muscle cells to replace the missing or deficient GAA that is needed to prevent build-up of glycogen in the muscles. Avalglucosidase alfa is an investigational ERT for Pompe disease designed to improve the delivery of enzyme to the cells in the muscles, most notably into skeletal muscle. With approximately 15 moles of mannose-6-phosphate (M6P) per mole of GAA, avalglucosidase alfa aims to help improve cellular enzyme uptake and enhance glycogen clearance in target tissues.iii

The FDA granted Fast Track designation to avalglucosidase alfa for the treatment of patients with Pompe disease. Avalglucosidase alfa has not been approved by the U.S. FDA or any other regulatory agency worldwide for the uses under investigation.

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