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

Journal of Inherited Metabolic Disease - Tập 26 Số 6 - Trang 513-526 - 2003
Timothy M. Cox1, Johannes M. F. G. Aerts2, Generoso Andria3, Michael Beck4, Nadia Belmatoug5, Bruno Bembi6, Raul Chertkoff7, Stephan Vom Dahl8, Deborah Elstein9, Anders Erikson10, Manuel Giralt11, René Heitner12, Carla E. M. Hollak13, Martin Hřebı́ček14, Susan Lewis15, Atul Mehta16, Gregory M. Pastores17, Arndt Rolfs18, María Miranda19, Ari Zimran20
1Department of Medicine University of Cambridge Box 157, Addenbrooke's Hospital Cambridge CB2 2QQ UK
2Department of Biochemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
3Department of Paediatrics, Federico II University, Naples, Italy
4Biochemisch-Genetisches Labor Universitats-Kinderklinik Mainz Germany
5Hôpital Beaujon, Clichy, France
6Istituto per l'Infanzia Burlo Garofolo, Trieste, Italy
7Israeli Gaucher Patients Association Haifa Israel
8Klinik für Gastroenterologie, Hepatologie und Infektiologie Universitätsklinikum der Heinrich‐Heine‐Universität Düsseldorf Germany
9Gaucher Clinic, Shaare-Zedek Medical Center, Jerusalem, Israel
10Department of Paediatrics, Umea University Hospital, Umea, Sweden.
11Jefe del Servicio de Hematologia Hospital ‘Miguel Servet’ Zaragoza Spain
12Johannesburg Hospital, Department of Paediatrics University of Witwatersrand South Africa
13Department of Internal Medicine and Haematology, Academic Medical Centre, Amsterdam, The Netherlands
14Institute of Inherited Metabolic Disorders, Prague, Czech Republic
15Gauchers Association London UK
16Department of Haematology Royal Free Hospital London, UK
17New York University School of Medicine, New York, USA
18Klinik für Neurologie und Poliklinik Universität Rostock Rostock Germany
19Instituto de Genetica Medica Porto Portugal
20Gaucher Clinic, Department of Medicine Shaare Zedek Medical Center Jerusalem Israel

Tóm tắt

Abstract

N‐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 N‐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.

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Thông tin xuất bản

Journal of Inherited Metabolic Disease

Tập 26 Số 6

513-526

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