Miglustat in adult and juvenile patients with Niemann-Pick disease type C: Long-term data from a clinical trial

James E. Wraith, Darleen Vecchio, Elizabeth Jacklin, Larry Abel, Harbajan Chadha-Boreham, Cécile Luzy, Ruben Giorgino, Marc C. Patterson

Research output: Contribution to journalArticlepeer-review

150 Scopus citations


A randomized, controlled trial of miglustat indicated that miglustat (Zavesca®) stabilized neurological disease over 12 months in adult and juvenile patients with Niemann-Pick disease type C (NP-C). We report data from a non-controlled, open-label extension to this initial randomized trial. All patients completing the randomized trial were allowed to continue treatment in a 12-month, non-controlled open-label extension. Those completing 12 months of extension therapy could continue further on miglustat in a 'continued extension' phase. From a total of 29 patients in the randomized phase (mean [±SD] age 24.6 ± 9.1 years; 52% female), 21 completed 12 months of therapy with miglustat (17 of whom received miglustat in the initial randomized phase, and four in the extension phase), and 15 patients (all from the miglustat-randomized group) completed 24 months on miglustat. Mean horizontal saccadic eye movement velocity (HSEM-α) indicated improvement in the 12-month miglustat group, and stabilization in the 24-month group; swallowing was improved or stable in 86% and in up to 93%, respectively. Ambulation was stabilized in both the 12- and 24-month groups. In an exploratory disease stability analysis of prospective data on key parameters of disease progression (HSEM-α, swallowing, ambulation and cognition), 13/19 (68%) patients receiving ≥12 months' miglustat therapy had stable disease. Among all patients receiving ≥1 dose of miglustat (n = 28), the most frequent adverse events were diarrhoea, weight decrease, flatulence and tremor. Overall, these data suggest that long-term miglustat therapy stabilizes neurological disease and is well tolerated in adult and juvenile patients with NP-C.

Original languageEnglish (US)
Pages (from-to)351-357
Number of pages7
JournalMolecular genetics and metabolism
Issue number4
StatePublished - Apr 2010


  • Efficacy
  • Long-term
  • Miglustat
  • Niemann-Pick type C
  • Safety

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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