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Predicting Age of Onset of Niemann-Pick Disease

Posted Jun 20 2013 8:00pm

Description of Invention:
Niemann-Pick disease (NPD) refers to a group of fatal inherited metabolic disorders. Children with type A or B NPD usually die within the first few months or years of life, while NPD type C progresses more slowly, and affected individuals may survive into their seventies. The lifespan of patients with NPD is related to the age of onset. At present, however, there is no effective diagnostic method to predict the age of NPD disease onset.

The instant invention presents diagnostic compositions and efficient methods for predicting the age of onset of a lysosomal storage disease (e.g., NPD) and of diseases associated with lysosomal of autophagic defects (e.g., Parkinson's disease and Alzheimer's disease) in patients. It can also be used to screen for agents useful in treating NPD patients.

  • Predicting the age of disease onset in patients with Niemann-Pick disease, and other diseases associated with lysosomal or autophagic defects.
  • Identifying agents for treating NPD patients.

A new method for predicting the age of NPD disease onset.

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

William J Pavan (NHGRI)
Jorgw L Rodriguez-Gil (NHGRI)
Denise M Larson (NHGRI)
Forbes D Porter (NICHD)

Patent Status:
HHS, Reference No. E-060-2013/0
US, Application No. 61/781,807 filed 14 Mar 2013

Collaborative Research Opportunity:
The National Human Genome Research Institute (NHGRI) is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate or commercialize diagnostic methods for predicting the age of onset of lysosomal disorders, such as NPD and Parkinson's. For collaboration opportunities, please contact Dr. William J. Pavan at .

For Licensing Information Please Contact:
Betty Tong Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-594-6565
Fax: 301-402-0220

Ref No: 2578

Updated: 06/2013

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