Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin.

ABSTRACT: BACKGROUND:Intrathecal 2-hydoxypropyl-β-cyclodextrin has been found to mobilize cholesterol, extend life, reduce cerebellar pathology, and delay onset of ataxia in the mouse and cat models of Niemann-Pick disease, type C1, a clinically variable progressive and ultimately fatal neurodegenerative storage disorder characterized by endolysosomal accumulation of unesterified cholesterol. OBJECTIVE:In this study, the long-term effects of intrathecal 2-hydoxypropyl-β-cyclodextrin treatment for 2.5 to three years in humans with Niemann-Pick disease, type C, were evaluated. METHODS:Three patients with Niemann-Pick disease, type C, in different stages of progression and displaying varying disease manifestations were treated with intrathecal 2-hydoxypropyl-β-cyclodextrin (VTS-270) delivered by lumbar

SUBMITTER: Berry-Kravis E 

PROVIDER: S-EPMC5857219 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature