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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)


Miglustat is an orally administered ceramide glucosyltransferase inhibitor which prevents the lysosomal accumulation of glucocerebroside that occurs in patients with Gaucher's disease. In noncomparative trials in patients with type 1 Gaucher's disease, miglustat (50 or 100mg three times daily) for 6-12 months significantly reduced baseline liver and spleen volumes. At both 6 and 12 months, the reductions in organ volumes were greater with the higher dosage. Miglustat 50 or 100mg three times daily for 6-12 months had no significant effect on haemoglobin concentrations. Baseline platelet counts were not significantly improved by either dosage at 6 months, although the higher dosage significantly increased platelet counts at 12 months. In an open extension phase, patients continued to show further reductions in organ volume as well as significant improvements in haematological parameters at 24 and 36 months. black triangle In a 6-month randomised study in patients with type 1 Gaucher's disease who had previously received long-term enzyme replacement therapy (ERT), liver volume reduction was greater with miglustat plus ERT than with ERT alone. Diarrhoea and weight loss were the most frequent adverse events associated with miglustat therapy. Fine tremor has been reported in approximately 30% of miglustat-treated patients.[1]


  1. Miglustat. McCormack, P.L., Goa, K.L. Drugs (2003) [Pubmed]
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