Biomarkers for Niemann-Pick Disease Type C and Related Disorders of Oxysterol Accumulation

Niemann-Pick disease type C (NPC) is a lethal lysosomal storage disorder characterized by liver disease and progressive neurodegeneration. Lysosomal storage is impaired by oxidized cholesterol (oxysterol) accumulation. Presenting signs and symptoms are nonspecific and the diagnosis is frequently difficult and delayed. The inventors established a rapid ELISA assay to evaluate biomarker levels in serum. The ELISA assay tests a novel combination of two biomarkers significantly elevated in NPC patients, Cathepsin D and Galectin-3. Other diseases can cause oxysterol accumulation, including other lysosomal storage diseases, cholesterol trafficking diseases, and neurodegenerative diseases. At least for the lysosomal storage diseases, the combination of elevated Cathepsin D and Galectin-3 appears specific for NPC. Cathepsin D is a lysosomal enzyme involved in protein degradation. The secreted Galectin-3 is mostly known as a chemoattractant for immune cells.

Potential Commercial Applications: Competitive Advantages:
  • NPC diagnosis
  • NPC patient disease progression monitoring
  • NPC therapeutic efficacy testing in Clinical Trials
  • Application of above methods to related diseases
  • Fast and non-invasive ELISA serum assay
  • Potential for high sensitivity
  • Cost effective

Development Stage:
  • Pilot
  • Early-stage
  • In vivo data available (animal)
  • In vivo data available (human)


Forbes Porter (NICHD)  ➽ more inventions...

Intellectual Property:
US Application No. 15/250,449
US Application No. 61/576,062
PCT Application No. PCT/US2012/069955
US Application No. 14/365,398

Licensing Contact:
Surekha Vathyam, Ph.D.
Phone: 240-276-6865

OTT Reference No: E-302-2011/0
Updated: Jul 5, 2013