Technology Bundle ID

Modulating Autophagy as a Treatment for Lysosomal Storage Diseases

Linked ID
Lead Inventors
Nina Raben (NIAMS)
Cynthia Schreiner (NIAMS)
Paul Plotz (NIAMS)
Rebecca Baum (NIAMS)
Shoichi Takikita (NIAMS)
Tao Xie (NIAMS)
Development Status
In vivo data available (animal)
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
26MAY09 CB Process - Initiated CB Process. Forwarded email to LPM. requesting details concerning the new technology. 26MAY09 CB Process - Replied to LPM's concern regarding ASAP filing. CB Process - Forwarded LPM Bid Packet for N. Pontzer to review

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