Modulating Autophagy as a Treatment for Lysosomal Storage Diseases

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.

Potential Commercial Applications: Competitive Advantages:
  • 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
  • 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

Development Stage:
In vivo data available (animal)


Nina Raben (NIAMS)  ➽ more inventions...

Cynthia Schreiner (NIAMS)  ➽ more inventions...

Paul Plotz (NIAMS)  ➽ more inventions...

Shoichi Takikita (NIAMS)  ➽ more inventions...

Tao Xie (NIAMS)  ➽ more inventions...

Rebecca Baum (NIAMS)  ➽ more inventions...

Intellectual Property:
US Pat: 8,536,148 issued 2013-09-17
PCT Application No. PCT/US2010/047730 filed on 2010-09-02
US Application No. 13/391,265 filed on 2012-02-17
US Application No. 13/970,265 filed on 2013-08-19

Raben N, et al. PMID 20861693
Raben N, et al. PMID 18782848

Collaboration Opportunity:

The National Institutes of Health is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate or commercialize the technology for disabling autophagy as a treatment for lysosomal storage diseases. For collaboration opportunities, please contact Cecilia Pazman at

Licensing Contact:
Michael Shmilovich, J.D.
Phone: 301-435-5019

OTT Reference No: E-210-2009-0
Updated: Jan 17, 2012