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CTSA Program-Supported Investigators Validate Biomarkers for NPC1 Treatment

With support from the Sharing Partnership for Innovative Research in Translation (SPIRiT) consortium, Daniel Ory, M.D., of Washington University in St. Louis, and Charles Vite, D.V.M., Ph.D., of the University of Pennsylvania, collaborated to validate biomarkers intended to monitor the response to therapy for Niemann-Pick disease type C1 (NPC1). SPIRiT, a collaboration among six Clinical and Translational Science Awards (CTSA) Program hubs, was critical in advancing an NCATS Therapeutics for Rare and Neglected Diseases (TRND) project to test a cyclodextrin therapy for NPC1 in clinical studies. Read more about the cyclodextrin study.

At left, fibroblasts homozygous for mutations in NPC1 demonstrate an increased accumulation of red Lysotracker staining indicative of the storage disease. At right, addition of cyclodextrin rescues this lysosomal storage defect.

At left, fibroblasts homozygous for mutations in NPC1 demonstrate an increased accumulation of red Lysotracker staining indicative of the storage disease. At right, addition of cyclodextrin rescues this lysosomal storage defect. (NCATS Photo)

Posted November 2017

Last updated: 11-28-2017
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