title: Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project.
abstract: There are few published data from real-world clinical experience with miglustat (Zavesca), an oral inhibitor of glucosylceramide synthase, in type 1 Gaucher disease. We report data from a prospective, open-label investigational study that evaluated substrate reduction therapy with miglustat 100 mg t.i.d. as a maintenance therapy in patients with Type 1 Gaucher disease who had been switched from previous enzyme replacement therapy. Long-term data on changes in organ size, blood counts, disease severity bio-markers, bone marrow infiltration, overall clinical status and safety/tolerability were analyzed from 28 patients with Type 1 Gaucher disease who were attending routine clinic visits. Assessments were performed at six, 12, 24, 36 and 48 months of therapy. Disease severity biomarkers improved up to 48 months after initiation of miglustat, while other disease parameters remained stable. Miglustat showed an acceptable profile of safety and tolerability throughout treatment. In conclusion, miglustat is an effective therapy for the long-term maintenance of patients with Type 1 Gaucher disease previously stabilized with enzyme replacement therapy.
authors.affiliation: Haematology Department, Miguel Servet University Hospital, Zaragoza, Spain. pgiraldo@salud.aragon.es
authors.forename: Pilar
authors.initials: P
authors.lastname: Giraldo
authors.forename: Pilar
authors.initials: P
authors.lastname: Alfonso
authors.forename: Koldo
authors.initials: K
authors.lastname: Atutxa
authors.forename: María A
authors.initials: MA
authors.lastname: Fernández-Galán
authors.forename: Abelardo
authors.initials: A
authors.lastname: Barez
authors.forename: Rafael
authors.initials: R
authors.lastname: Franco
authors.forename: Dora
authors.initials: D
authors.lastname: Alonso
authors.forename: Alejandro
authors.initials: A
authors.lastname: Martin
authors.forename: Paz
authors.initials: P
authors.lastname: Latre
authors.forename: Miguel
authors.initials: M
authors.lastname: Pocovi
mesh_terms: D017485:1-Deoxynojirimycin / Q000009:adverse effects / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000293:Adolescent; D000328:Adult; D019742:Chemokines, CC / Q000378:metabolism; D002648:Child; D004791:Enzyme Inhibitors / Q000009:adverse effects / Q000627:therapeutic use; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000201:enzymology; D065089:Glycoside Hydrolase Inhibitors; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009929:Organ Size / Q000187:drug effects; D011446:Prospective Studies; D011788:Quality of Life; D013154:Spleen / Q000473:pathology; D011795:Surveys and Questionnaires; D013997:Time Factors; D016896:Treatment Outcome; D015431:Weight Loss / Q000187:drug effects; D055815:Young Adult
chemical_list: C111792:CCL18 protein, human; D019742:Chemokines, CC; D004791:Enzyme Inhibitors; D065089:Glycoside Hydrolase Inhibitors; D017485:1-Deoxynojirimycin; C059896:miglustat; D006596:Hexosaminidases; C086400:chitotriosidase