The role of the iminosugar <i>N</i>‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement

  • T. M. Cox
    Department of Medicine University of Cambridge, Addenbrooke's Hospital Cambridge UK
  • J. M. F. G. Aerts
    Department of Biochemistry, Academic Medical Centre University of Amsterdam Amsterdam The Netherlands
  • G. Andria
    Department of Paediatrics Federico II University Naples Italy
  • M. Beck
    Biochemisch‐Genetisches Labor Universitats‐Kinderklinik Mainz Germany
  • N. Belmatoug
    Hôpital Beaujon Clichy France
  • B. Bembi
    Istituto per l'Infanzia Burlo Garofolo Trieste Italy
  • R. Chertkoff
    Israeli Gaucher Patients Association Haifa Israel
  • S. Vom Dahl
    Klinik für Gastroenterologie, Hepatologie und Infektiologie Universitätsklinikum der Heinrich‐Heine‐Universität Düsseldorf Germany
  • D. Elstein
    Gaucher Clinic Shaare Zedek Medical Center Jerusalem Israel
  • A. Erikson
    Department of Paediatrics Umea University Hospital Umea Sweden
  • M. Giralt
    Jefe del Servicio de Hematologia Hospital ‘Miguel Servet’ Zaragoza Spain
  • R. Heitner
    Johannesburg Hospital, Department of Paediatrics University of Witwatersrand South Africa
  • C. Hollak
    Department of Internal Medicine and Haematology Academic Medical Centre Amsterdam The Netherlands
  • M. Hrebicek
    Institute of Inherited Metabolic Disorders Prague Czech Republic
  • S. Lewis
    Gauchers Association London UK
  • A. Mehta
    Department of Haematology Royal Free Hospital London UK
  • G. M. Pastores
    New York University School of Medicine New York USA
  • A. Rolfs
    Klinik für Neurologie und Poliklinik Universität Rostock Rostock Germany
  • M. C. Sa Miranda
    Instituto de Genetica Medica Porto Portugal
  • A. Zimran
    Gaucher Clinic, Department of Medicine Shaare Zedek Medical Center Jerusalem Israel

抄録

<jats:title>Abstract</jats:title><jats:p><jats:italic>N</jats:italic>‐Butyldeoxynojirimycin (NB‐DNJ, miglustat ‘Zavesca’) is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that accumulate pathologically in glycosphingolipidoses. Clinical trials of NB‐DNJ in patients with Gaucher's disease demonstrate the therapeutic potential of such substrate inhibitors in the glycolipid storage disorders. However, macrophage‐targetted enzyme replacement using intravenous mannose‐terminated human glucocerebrosidase (imiglucerase, Cerezyme) is highly effective in ameliorating many of the manifestations of Gaucher's disease and is a treatment in widespread use. Given that imiglucerase and miglustat are now both licensed for the treatment of Gaucher's disease, there is a need to review their therapeutic status. Here the treatment of type 1 (non‐neuronopathic) Gaucher disease is evaluated with particular reference to the emerging role of oral <jats:italic>N</jats:italic>‐butyldeoxynojirimycin (miglustat) as a substrate‐reducing agent. This position statement represents the consensus viewpoint of an independent international advisory council to the European Working Group on Gaucher Disease.</jats:p>

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