Technology ID

Modulating Autophagy as a Treatment for Lysosomal Storage Diseases

Lead Inventor
Raben, Nina (NIAMS)
Schreiner, Cynthia (NIAMS)
Plotz, Paul (Estate of) (NIAMS)
Takikita, Shoichi (NIAMS)
Xie, Tao (NIAMS)
Baum, Rebecca (NIAMS)
Research Materials
Development Status
In vivo data available (animal)
Lead IC
Researchers at NIAMS have developed a technology for treatment of lysosomal storage diseases by inhibition of autophagy. Pompe disease is an example of a genetic lysosomal storage disease caused by a reduction or absence of acid alpha-glucosidase (GAA). Patients with Pompe disease have a lysosomal buildup of glycogen in cardiac and skeletal muscle cells and severe cardiomyopathy and skeletal muscle myopathy. Treatment of Pompe disease by GAA enzyme replacement therapy is quite ineffective for the skeletal muscle myopathy. Skeletal muscle resistance to therapy is associated with increased cellular buildup of autophagic debris. Inactivation of autophagy results in effective GAA replacement therapy and a reduction in glycogen back to normal levels. This technology provides a novel approach for the treatment of Pompe disease as well as other diseases where autophagy is a critical contributor to disease development.
Commercial Applications
  • Development of tools for autophagy suppression and treatment of a variety of diseases
  • Development of chemical inhibitors of autophagy
  • Development of animal models to study lysosomal storage diseases
Competitive Advantages
  • This technology is the first use of autophagy disablement to reverse an intracellular pathology
  • More effective than enzyme replacement therapy alone for the treatment of the lysosomal storage disease, Pompe disease
Licensing Contact:
Shmilovich, Michael