Promising new treatment for fatal neurological disease Niemann-Pick type C1



Niemann-Pick Disease type C (NPC) is a rare, lethal, neurodegenerative disorder caused by genetic mutations in the NPC1 or NPC2 genes, which affect the intracellular trafficking of cholesterol and other lipids. This disease frequently becomes apparent in childhood and often leads to death in adolescence. There currently is no FDA-approved therapy for NPC, and patients and their families are in need of an effective therapy for treating individuals with this debilitating disorder.


IRP researchers at the National Center for Advancing Translational Sciences (NCATS), along with other intramural researchers led by Forbes Porter, M.D., Ph.D., and in collaboration with extramural investigators, the pharmaceutical industry, and family-patient groups, worked to develop and execute a Phase 1-2 study of 2-hydroxypropyl-β-cyclodextrin therapy in NPC1 patients. The collaborative team overcame hurdles in the direct delivery of the drug to the central nervous system, and the trial ultimately showed that the treatment slowed neurological progression of NPC in those patients.


With the positive results from the Phase 1-2 trial, the therapy is currently being tested in a multicenter, international Phase 3 pivotal clinical efficacy trial. If successful, this will be the first FDA-approved therapy for NPC that would slow progression of the disease, greatly benefiting NPC patients and their families. This collaborative research program highlights the benefits of public-private partnerships in the process of developing new treatments.


Ory DS, Ottinger EA, Frahat NY, King K., Jiang XT, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhy R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, and Porter FD. Intrathecal 2-hydroxypropyl-beta-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. (2017). Lancet. 390(10104): 1758-1768.

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This page was last updated on Friday, June 9, 2023