10
views
0
recommends
+1 Recommend
1 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

      ,

      Therapeutics and Clinical Risk Management

      Dove Medical Press

      Niemann-Pick disease type C, NP-C, miglustat, Zavesca®

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          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®), 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.

          Related collections

          Author and article information

          Journal
          Ther Clin Risk Manag
          Therapeutics and Clinical Risk Management
          Therapeutics and Clinical Risk Management
          Dove Medical Press
          1176-6336
          1178-203X
          2009
          2009
          18 November 2009
          : 5
          : 877-887
          Affiliations
          Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK
          Author notes
          Correspondence: James E Wraith, Honorary Professor in Paediatric, Inherited Metabolic Medicine Genetic, Medicine, Manchester Academic Health, Science Centre, Central Manchester, University Hospitals NHS Foundation, Trust, St. Mary’s Hospital, Oxford Road, Manchester, M13 9WL, UK, Tel +44 (0)161 701 2137/8, Fax +44 (0)161 701 2303, Email ed.wraith@ 123456cmft.nhs.uk
          Article
          tcrm-5-877
          2781062
          19956552
          © 2009 Wraith and Imrie, publisher and licensee Dove Medical Press Ltd.

          This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited.

          Categories
          Review

          Medicine

          niemann-pick disease type c, zavesca®, miglustat, np-c

          Comments

          Comment on this article