Technology ID
TAB-3564

Compounds for Niemann Pick C and Other Lysosomal Storage Disorders

E-Numbers
E-040-2015-0
Lead Inventor
Patnaik, Samarjit (NCATS)
Co-Inventors
Taylor, Mercedes (NCATS)
Dranchak, Patricia (NCATS)
Dehdashti, Seameen (NCATS)
Chen, Frannie (Icahn School of Medicine at Mount Sinai)
Ioannou, Yiannis (Icahn School of Medicine at Mount Sinai)
Southall, Noel (NCATS)
Calvo, Raul (NCATS)
Zheng, Wei (NCATS)
Ferrer-Alegre, Marc (NCATS)
Marugan, Juan (NCATS)
Applications
Therapeutics
Therapeutic Areas
Ophthalmology
Oncology
Infectious Disease
Endocrinology
Dental
Cardiology
Lead IC
NCATS
ICs
NCATS
This technology includes compounds that improve endoplasmic reticulum-lysosomal trafficking and normalizes the Niemann-Pick type C (NPC) phenotype in assays using NPC1 patient cells, which can be used for the treatment of NPC, other lysosomal storage disorders, and potentially other neurodegenerative disorders. NPC is a rare neurodegenerative lipidosis caused by mutations in NPC1 or NPC2 genes, and characterized by the accumulation of cholesterol and glycolipids in the late endosomes and lysosomes. Currently there is no FDA-approved treatment for this devastating neurodegenerative disease. Overexpression of such mutant NPC1 proteins has been shown to rescue the disease phenotype in vitro, suggesting that upregulation of endogenous NPC1 as a therapeutic strategy.
Commercial Applications
Small molecules can be used as tools in research and can be developed into drugs for Niemann Pick C disease, other lysosomal storage disorders, and potentially other neurodegenerative diseases, including Alzheimer's and Parkinson's.

Competitive Advantages
The current treatment under study is administered directly into the brain, therefore the development of small molecules as a targeted and curative treatment with the ability to cross the blood brain barrier is of utmost importance.
Licensing Contact:
Vepa, Suryanarayana
sury.vepa@nih.gov