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Glucocerebrosidase Activators for the Treatment of Gaucher Disease, Parkinson's Disease, and Other Proteinopathies

Posted Nov 05 2012 7:00pm

Description of Invention:

Gaucher disease is a rare lysosomal storage disease that is characterized by a loss of function of the glucocerebrosidase (GCase) enzyme, which results in a decreased ability to degrade its lipid substrate, glucocerebroside. The intracellular build up of this lipid causes a broad range of clinical manifestations, ranging from enlarged spleen/liver and anemia to neurodegeneration. In Gaucher disease, the loss of GCase function has been attributed to low levels of the protein in the lysosomal compartment, resulting from improper GCase folding and transport. Also, mutations in the GCase gene have been linked to some forms of Parkinson's disease, and may also be involved in other proteinopathies.

This technology describes a collection of salicylic acid-derived small molecules that act as chaperones to activate proper GCase folding and subsequent transport from the endoplasmic reticulum into the lysosome. Unlike many other small molecule chaperones, these salicylic acid derivatives do not inhibit the activity of the GCase enzyme. These small molecules have been tested for the ability to activate GCase in vitro and show chaperone activity in a patient-derived fibroblast translocation assay.

  • Treatment of Gaucher disease
  • Treatment of Parkinson’s disease
  • Treatment of other lysosomal storage diseases

The compounds are novel small molecules that enhance proper GCase folding and transport without inhibiting enzyme activity in the lysosome.

Development Status:
  • Early-stage
  • In vitro data available

Ellen Sidransky (NHGRI)
Noel T Southall (NCATS)
Juan J Marugan (NCATS)
Wei Zheng (NCATS)
Samarjit Patnaik (NCATS)
Ehud M Goldin (NHGRI)
Wendy Westbroek (NHGRI)

Patent Status:
HHS, Reference No. E-144-2012/0
US, Application No. 61/616,758 filed 28 Mar 2012
US, Application No. 61/616,773 filed 28 Mar 2012

Relevant Publication:
  1. Related publication is currently in preparation.

Collaborative Research Opportunity:
The National Center for Advancing Translational Sciences is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate or commercialize this technology. For collaboration opportunities, please contact Dr. Juan Marugan at .

For Licensing Information Please Contact:
Tara Kirby Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-435-4426
Fax: 301-402-0220

Ref No: 2493

Updated: 11/2012

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