Journal of Inherited Metabolic Disease

, Volume 26, Issue 6, pp 513–526 | Cite as

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

  • T. M. Cox
  • J. M. F. G. Aerts
  • G. Andria
  • M. Beck
  • N. Belmatoug
  • B. Bembi
  • R. Chertkoff
  • S. Vom Dahl
  • D. Elstein
  • A. Erikson
  • M. Giralt
  • R. Heitner
  • C. Hollak
  • M. Hrebicek
  • S. Lewis
  • A. Mehta
  • G. M. Pastores
  • A. Rolfs
  • M. C. Sa Miranda
  • A. Zimran

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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Copyright information

© Kluwer Academic Publishers 2003

Authors and Affiliations

  • T. M. Cox
    • 1
    • 2
  • J. M. F. G. Aerts
    • 3
  • G. Andria
    • 4
  • M. Beck
    • 5
  • N. Belmatoug
    • 6
  • B. Bembi
    • 7
  • R. Chertkoff
    • 8
  • S. Vom Dahl
    • 9
  • D. Elstein
    • 10
  • A. Erikson
    • 11
  • M. Giralt
    • 12
  • R. Heitner
    • 13
  • C. Hollak
    • 14
  • M. Hrebicek
    • 15
  • S. Lewis
    • 16
  • A. Mehta
    • 17
  • G. M. Pastores
    • 18
  • A. Rolfs
    • 19
  • M. C. Sa Miranda
    • 20
  • A. Zimran
    • 21
  1. 1.Department of MedicineUniversity of Cambridge, Addenbrooke's HospitalCambridgeUK
  2. 2.Department of MedicineUniversity of CambridgeCambridgeUK
  3. 3.Department of Biochemistry, Academic Medical CentreUniversity of AmsterdamAmsterdamThe Netherlands
  4. 4.Department of PaediatricsFederico II UniversityNaplesItaly
  5. 5.Biochemisch-Genetisches LaborUniversitats-KinderklinikMainzGermany
  6. 6.Hôpital BeaujonClichyFrance
  7. 7.Istituto per l'Infanzia Burlo GarofoloTriesteItaly
  8. 8.Israeli Gaucher Patients AssociationHaifaIsrael
  9. 9.Klinik für Gastroenterologie, Hepatologie und InfektiologieUniversitätsklinikum der Heinrich-Heine-UniversitätDüsseldorfGermany
  10. 10.Gaucher ClinicShaare Zedek Medical CenterJerusalemIsrael
  11. 11.Department of PaediatricsUmea University HospitalUmeaSweden
  12. 12.Jefe del Servicio de HematologiaHospital 'Miguel Servet'ZaragozaSpain
  13. 13.Johannesburg Hospital, Department of PaediatricsUniversity of WitwatersrandSouth Africa
  14. 14.Department of Internal Medicine and HaematologyAcademic Medical CentreAmsterdamThe Netherlands
  15. 15.Institute of Inherited Metabolic DisordersPragueCzech Republic
  16. 16.Gauchers AssociationLondonUK
  17. 17.Department of HaematologyRoyal Free HospitalLondonUK
  18. 18.New York University School of MedicineNew YorkUSA
  19. 19.Klinik für Neurologie und PoliklinikUniversität RostockRostockGermany
  20. 20.Instituto de Genetica MedicaPortoPortugal
  21. 21.Gaucher Clinic, Department of MedicineShaare Zedek Medical CenterJerusalemIsrael

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