ArticleTherapeutics and clinical risk management2009
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat.
Article in Therapeutics and clinical risk management, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- Treatment for dysphagia (swallowing difficulties) in hereditary ataxia.The Cochrane database of systematic reviews · 2015Pooled it
- Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1.Journal of child neurology · 2018Trial
- Targeting Glucosylceramide Synthase: Innovative Drug Repurposing Strategies for Lysosomal Diseases.International journal of molecular sciences · 2025Article
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.International journal of molecular sciences · 2023Article
- Article
- Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.International journal of molecular sciences · 2021Review
- The SPPL3-Defined Glycosphingolipid Repertoire Orchestrates HLA Class I-Mediated Immune Responses.Immunity · 2021Article
- Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis.Orphanet journal of rare diseases · 2019Article
- Pneumococcal Immunization Reduces Neurological and Hepatic Symptoms in a Mouse Model for Niemann-Pick Type C1 Disease.Frontiers in immunology · 2018Article
- Advantages of Structure-Based Drug Design Approaches in Neurological Disorders.Current neuropharmacology · 2017Review
- Current and Future Treatments for Lysosomal Storage Disorders.Current treatment options in neurology · 2017Review
- The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran.Iranian journal of child neurology · 2017Article
- Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.EBioMedicine · 2016Article
- Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.BMC neurology · 2015Observational
- Niemann-Pick disease treatment: a systematic review of clinical trials.Annals of translational medicine · 2015Review
- Stability of refrigerated miglustat after preparation in InOrpha(®) flavored suspending excipient for compounding of oral solutions and suspensions.Drug design, development and therapy · 2015Article
- Cataplexy and sleep disorders in Niemann-Pick type C disease.Current neurology and neuroscience reports · 2015Review
- Sphingolipid signalling mediates mitochondrial dysfunctions and reduced chronological lifespan in the yeast model of Niemann-Pick type C1.Molecular microbiology · 2014Article
- Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.Journal of inherited metabolic disease · 2014Article
- Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive neurological deterioration leading to premature death. The disease is caused by mutations in one of two genes, NPC1 or NPC2, leading to impaired intracellular lipid transport and build-up of lipids in various tissues, particularly the brain. Miglustat (Zavesca(R)), a reversible inhibitor of glycosphingolipid synthesis, has recently been authorized in the European Union, Brazil and South Korea for the treatment of progressive neurological symptoms in adult and pediatric patients, and represents the first specific treatment for NP-C. Here we review current data on the pharmacology, efficacy, safety and tolerability of miglustat in patients with NP-C, based on findings from a prospective clinical trial, preclinical and retrospective studies, and case reports. Findings demonstrated clinically relevant beneficial effects of miglustat on neurological disease progression in adult, juvenile and pediatric patients with NP-C, particularly those diagnosed in late childhood (6-11 years) and in juveniles and adults (12 years and older), compared with those diagnosed in early childhood (younger than 6 years). Miglustat therapy was well-tolerated in all age groups. With the approval of miglustat, treatment of patients with NP-C can now be aimed toward stabilizing neurological disease, which is likely the best attainable therapeutic goal for this disorder.
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