Muscle Directed Gene Therapy Application for Maple Syrup Urine Disease (MSUD)

Dr. Jenny Greig

Perelman School of Medicine at the University of Pennsylvania

This project sought to develop a muscle directed gene therapy application for MSUD using a mouse model for MSUD.  In humans, skeletal muscle is responsible for approximately 60% of the oxidative enzyme capacity compared to an approximately 10% contribution from the liver.  Therefore, we evaluated the efficacy of a muscle directed gene therapy approach, compared to one directed to the liver. Results were promising. Future work will examine the efficacy and safety of this approach in primates.

This project was supported by the Million Dollar Bike Ride, sponsored by the Orphan Disease Center at the University of Pennsylvania.