Pompe genetic medicine

Amicus Therapeutics is developing a next-generation genetic medicine for Pompe disease, a rare lysosomal storage disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). Developed in collaboration with the University of Pennsylvania's Gene Therapy Program, this program utilizes a gene therapy approach to deliver a functional GAA gene to target tissues. The goal is to provide a treatment that achieves sustained enzyme expression and addresses the limitations of current enzyme replacement therapies, particularly in reaching the central nervous system and skeletal muscle. Preclinical data has shown significant reduction of glycogen in the heart, skeletal muscles, and the spinal cord.

Other names

Amicus Pompe gene therapy