Daniel S Ory 1 , Elizabeth A Ottinger 2 , Nicole Yanjanin Farhat 3 , Kelly A King 4 , Xuntian Jiang 1 , Lisa Weissfeld 5 , Elizabeth Berry-Kravis 6 , Cristin D Davidson 7 , Simona Bianconi 3 , Lee Ann Keener 3 , Ravichandran Rao 8 , Ariane Soldatos 9 , Rohini Sidhu 1 , Kimberly A Walters 5 , Xin Xu 2 , Audrey Thurm 10 , Beth Solomon 11 , William J Pavan 12 , Bernardus N Machielse 8 , Mark Kao 13 , Steven A Silber 14 , John C McKew 2 , Carmen C Brewer 4 , Charles H Vite 15 , Steven U Walkley 7 , Christopher P Austin 2 , Forbes D Porter 16
Oct 14 2017
Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing, 2-hydroxypropyl-β-cyclodextrins (HPβCD) significantly delayed cerebellar Purkinje cell loss, slowed progression of neurological manifestations, and increased lifespan in mouse and cat models of NPC1. The aim of this study was to assess the safety and efficacy of lumbar intrathecal HPβCD.