Predicting Age of Onset of Niemann-Pick Disease

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.

Potential Commercial Applications: Competitive Advantages:
  • 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 Stage:
  • Early-stage
  • Pre-clinical
  • In vitro data available


William Pavan (NHGRI)  ➽ more inventions...

Jorgw Rodriguez-Gil (NHGRI)  ➽ more inventions...

Denise Larson (NHGRI)  ➽ more inventions...

Forbes Porter (NICHD)  ➽ more inventions...

Intellectual Property:
US Application No. 14/776,440
US Application No. 61/781,807
PCT Application No. PCT/US2014/028986

Collaboration 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

Licensing Contact:
Anna Solowiej,
Phone: 301-435-7791

OTT Reference No: E-060-2013/0
Updated: Jun 21, 2013