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<a href="http://doi.org/10.1016/S1474-4422(07)70194-1" target="_blank" rel="noreferrer">http://doi.org/10.1016/S1474-4422(07)70194-1</a>
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Title
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Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
Publisher
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Lancet Neurology
Date
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2007
Subject
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Child; Female; Humans; Male; Cohort Studies; Adult; Age Factors; Severity of Illness Index; Analysis of Variance; Double-Blind Method; Drug Administration Schedule; adolescent; Preschool; Q3 Literature Search; retrospective studies; Niemann-Pick Disease; 1-Deoxynojirimycin/analogs & derivatives/therapeutic use; Deglutition/drug effects; Enzyme Inhibitors/therapeutic use; Saccades/drug effects; Type C/drug therapy/physiopathology
Creator
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Patterson MC; Vecchio D; Prady H; Abel L; Wraith JE
Description
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BACKGROUND: Niemann-Pick type C disease (NPC) is an inherited neurodegenerative disorder characterised by an intracellular lipid-trafficking defect with secondary accumulation of glycosphingolipids. Miglustat, a small iminosugar, reversibly inhibits glucosylceramide synthase, which catalyses the first committed step of glycosphingolipid synthesis. Miglustat is able to cross the blood-brain barrier, and is thus a potential therapy for neurological diseases. We aimed to establish the effect of miglustat on several markers of NPC severity. METHODS: Patients aged 12 years or older who had NPC (n=29) were randomly assigned to receive either miglustat 200 mg three times a day (n=20) or standard care (n=9) for 12 months. 12 children younger than 12 years of age were included in an additional cohort; all received miglustat at a dose adjusted for body surface area. All participants were then treated with miglustat for an additional year in an extension study. The primary endpoint was horizontal saccadic eye movement (HSEM) velocity, based on its correlation with disease progression. This study is registered as an International Standard Randomised Controlled Trial, number ISRCTN26761144. FINDINGS: At 12 months, HSEM velocity had improved in patients treated with miglustat versus those receiving standard care; results were significant when patients taking benzodiazepines were excluded (p=0.028). Children showed an improvement in HSEM velocity of similar size at 12 months. Improvement in swallowing capacity, stable auditory acuity, and a slower deterioration in ambulatory index were also seen in treated patients older than 12 years. The safety and tolerability of miglustat 200 mg three times a day in study participants was consistent with previous trials in type I Gaucher disease, where half this dose was used. INTERPRETATION: Miglustat improves or stabilises several clinically relevant markers of NPC. This is the first agent studied in NPC for which there is both animal and clinical data supporting a disease modifying benefit.
2007
Identifier
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<a href="http://doi.org/10.1016/S1474-4422(07)70194-1" target="_blank" rel="noreferrer">10.1016/S1474-4422(07)70194-1</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
1-Deoxynojirimycin/analogs & derivatives/therapeutic use
2007
Abel L
Adolescent
Adult
Age Factors
Analysis of Variance
Backlog
Child
Cohort Studies
Deglutition/drug effects
Double-Blind Method
Drug Administration Schedule
Enzyme Inhibitors/therapeutic use
Female
Humans
Journal Article
Lancet Neurology
Male
Niemann-Pick Disease
Patterson MC
Prady H
Preschool
Q3 Scoping Review Results
Retrospective Studies
Saccades/drug effects
Severity Of Illness Index
Type C/drug therapy/physiopathology
Vecchio D
Wraith JE