Technology ID

Predicting Age of Onset of Niemann-Pick Disease

Linked ID
Denise Larson (NHGRI)
Forbes Porter (NICHD)
Jorge Rodriguez-Gil (NHGRI)
William Pavan (NHGRI)
Lead Inventors
William Pavan (NHGRI)
Denise Larson (NHGRI)
Forbes Porter (NICHD)
Jorge Rodriguez-Gil (NHGRI)
Development Status
  • Early-stage
  • Pre-clinical
  • In vitro data available
Therapeutic Areas
Commercial Applications
  • 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.
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.
Competitive Advantages
A new method for predicting the age of NPD disease onset.

Request More Info

Licensing Contact