Amicus Therapeutics Enters Research & Development Collaboration

Amicus Therapeutics recently announced a major collaboration with the Gene Therapy Program in the Perelman School of Medicine at the University of Pennsylvania (Penn) to pursue research and development of novel gene therapies for Pompe disease, Fabry disease, CDKL5 deficiency and one additional undisclosed rare metabolic disorder. This relationship will combine Amicus’ protein engineering and glycobiology expertise with Penn’s adeno associated virus (AAV) gene transfer technologies to develop AAV gene therapies designed for optimal cellular uptake, targeting, dosing, safety and manufacturability.

“This groundbreaking collaboration with Penn offers a new opportunity to potentially transform the lives of people living with these severe genetic disorders,” said John F. Crowley, Chairman and Chief Executive Officer of Amicus. “For people living with Fabry, it is a fulfillment of our pledge to advance science toward a cure for Fabry disease. We are partners now with the Fabry community for life. For Pompe, this is another important step on a lifelong journey toward the ultimate answer to finally cure Pompe. If we are to do so, we must have a gene therapy that addresses the many technical challenges in Pompe disease and that employs state of the art science in both protein and gene therapy engineering. For CDKL5 and other rare metabolic disorders, this collaboration is the foundation for advancing new therapies for these devastating genetic disorders.  Dr. Wilson’s laboratory and The Gene Therapy Program at Penn has strong capabilities in its AAV vector technology, as well as manufacturing and immunology strategies to develop novel gene therapy candidates, and to successfully advance them through preclinical development. This is another important step in Amicus becoming the leader in gene therapy for rare metabolic disorders.”

Penn’s AAV vector technology is designed to improve targeting, tropism, safety, immunogenicity, and gene delivery, while Amicus’ protein engineering capabilities may optimize protein expression, secretion, targeting and uptake of the target protein. The agreement between Amicus and Penn is a Research, Collaboration and License Agreement, with funding provided to Penn to advance the preclinical research programs in the Wilson Lab and to license certain technologies invented under the funded Research Collaboration. The collaboration program will focus on developing innovative new AAV gene therapies for Pompe disease, Fabry disease, CDKL5 deficiency and one additional undisclosed rare metabolic disorder.

“Amicus has developed unique abilities in drug development in the lysosomal storage disorders, particularly in Pompe and Fabry diseases,” said James M. Wilson, MD PhD, Professor of Medicine and Pediatrics at the Perelman School of Medicine. “There are multiple and unique challenges in developing optimal gene therapy products for patients living with Pompe and Fabry diseases. I believe that we can combine the technologies and capabilities from my research laboratory at Penn with the Amicus expertise in protein engineering, glycobiology and disease biology understanding to rapidly advance novel gene therapies to the clinic. Because of their unique capabilities and their commitment to great science and to patients, we are excited about our new partnership with Amicus to develop AAV gene therapies for patients with urgent unmet needs.”

Amicus Therapeutics is a global, patient-centric biotechnology company focused on discovering, developing, and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases. For more information, visit