Technology ID

Mouse Model of Pompe Disease for Therapy Discovery

Lead Inventor
Raben, Nina (National Heart, Lung and Blood Institute (NIH/NHLBI))
Plotz, Paul (Estate of) (NIAMS)
Research Materials
Therapeutic Areas
Metabolic Disease
Development Stages
Pre-clinical (in vivo)
Research Products
Animal Models
Lead IC

This technology includes a mouse model of Pompe disease, created by targeted inactivation of the acid alpha-glucosidase gene, to test novel therapies. Pompe disease is a severe muscle disorder that affects people at any age. It is a rare genetic disease caused by a deficiency of a lysosomal enzyme acid alpha-glucosidase. The enzyme degrades glycogen to glucose in the lysosomes. The deficiency leads to accumulation of glycogen in multiple organs, but cardiac and skeletal muscles are most severely affected. This model is used world-wide to test different treatments and to better understand the mechanism of muscle damage in this disorder.

Commercial Applications
To be utilized for the testing of novel, advanced therapies for Pompe disease.

Competitive Advantages
This model was made in 1998 and has since been widely used by both academic and commercial institutions.
Licensing Contact:
Knezevic, Vladimir