title: The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.
abstract: N-Butyldeoxynojirimycin (NB-DNJ, miglustat 'Zavesca') is an orally active 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.
authors: Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK. jbg20@medschl.cam.ac.uk
authors: T M
authors: TM
authors: Cox
authors: J M F G
authors: JM
authors: Aerts
authors: G
authors: G
authors: Andria
authors: M
authors: M
authors: Beck
authors: N
authors: N
authors: Belmatoug
authors: B
authors: B
authors: Bembi
authors: R
authors: R
authors: Chertkoff
authors: S
authors: S
authors: Vom Dahl
authors: D
authors: D
authors: Elstein
authors: A
authors: A
authors: Erikson
authors: M
authors: M
authors: Giralt
authors: R
authors: R
authors: Heitner
authors: C
authors: C
authors: Hollak
authors: M
authors: M
authors: Hrebicek
authors: S
authors: S
authors: Lewis
authors: A
authors: A
authors: Mehta
authors: G M
authors: GM
authors: Pastores
authors: A
authors: A
authors: Rolfs
authors: M C Sa
authors: MC
authors: Miranda
authors: A
authors: A
authors: Zimran
mesh_terms: D002986:Clinical Trials as Topic; D057487:Enzyme Therapy; D005776:Gaucher Disease / Q000175:diagnosis / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase