A hopeful therapy for Niemann-Pick C diseases

Niemann-Pick C1 disease (NPC1) is a rare autosomal recessive lysosomal storage disease, which was separated from the sphinomyelinase-deficient NPCA and NPCB when cholesterol was found to be stored.1 No drugs for the disease are currently approved in the USA, although miglustat is approved in Europe....

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Bibliographic Details
Published inThe Lancet (British edition) Vol. 390; no. 10104; pp. 1720 - 1721
Main Authors Erickson, Robert P, Fiorenza, Maria Teresa
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 14.10.2017
Elsevier Limited
Subjects
Alzheimer's disease
Animal models
Autophagy
Brain diseases
Cholesterol
Defects
Disease
Drug dosages
Drug therapy
Genetic disorders
Hope
Humans
Lipids
Medical screening
Metabolic disorders
Metabolism
Neurodegeneration
Niemann-Pick disease
Niemann-Pick Diseases
United States > US
Europe
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Summary:Niemann-Pick C1 disease (NPC1) is a rare autosomal recessive lysosomal storage disease, which was separated from the sphinomyelinase-deficient NPCA and NPCB when cholesterol was found to be stored.1 No drugs for the disease are currently approved in the USA, although miglustat is approved in Europe. In The Lancet, Daniel Ory and colleagues2 report strong evidence that intrathecal delivery of hydroxypropyl-beta-cyclodextrin (HPBCD) slows the progression of NPC1.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
content type line 23
ObjectType-Commentary-1
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(17)31631-8