title: Short-term effect of miglustat in every day clinical use in treatment-naïve or previously treated patients with type 1 Gaucher's disease.
abstract: In a prospective, open-label study, 25 patients with mild-to-moderate type 1 Gaucher's disease (GD1) were treated with miglustat (Zavesca), an oral glucosylceramide synthase inhibitor, over 12 months. Of the 25 patients, 10 were therapy-naïve and 15 had previously received enzyme replacement therapy (ERT). Clinical status, blood parameters, biomarkers, and organomegaly were assessed at baseline at 6 months and at 12 months. At 6 months the previously untreated patients showed a mean increase in hemoglobin of 0.77 g/dL, platelet counts improved or remaining stable, chitotriosidase and CCL18 decreased. These results were similar to those observed in 40 Spanish GD1 patients on ERT. Bone marrow infiltration cleared at 12 months. In the previously treated group, clinical and hematologic parameters and biomarkers were maintained/ improved at 12 months. Miglustat was well tolerated. The efficacy of miglustat treatment after 6 months was comparable to that of ERT.
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: Paz
authors.initials: P
authors.lastname: Latre
authors.forename: Pilar
authors.initials: P
authors.lastname: Alfonso
authors.forename: Antonio
authors.initials: A
authors.lastname: Acedo
authors.forename: Dora
authors.initials: D
authors.lastname: Alonso
authors.forename: Abelardo
authors.initials: A
authors.lastname: Barez
authors.forename: Alejandro
authors.initials: A
authors.lastname: Corrales
authors.forename: Rafael
authors.initials: R
authors.lastname: Franco
authors.forename: Vanessa
authors.initials: V
authors.lastname: Roldan
authors.forename: Sol
authors.initials: S
authors.lastname: Serrano
authors.forename: Miguel
authors.initials: M
authors.lastname: Pocovi
mesh_terms: D017485:1-Deoxynojirimycin / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000284:Administration, Oral; D000328:Adult; D000368:Aged; D001853:Bone Marrow / Q000473:pathology; D019742:Chemokines, CC / Q000097:blood; D004334:Drug Administration Schedule; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics; D005838:Genotype; D005962:Glucosylceramidase / Q000627:therapeutic use; D005963:Glucosylceramides / Q000096:biosynthesis; D005964:Glucosyltransferases / Q000037:antagonists & inhibitors; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D011788:Quality of Life; D016896:Treatment Outcome
chemical_list: C111792:CCL18 protein, human; D019742:Chemokines, CC; D005963:Glucosylceramides; D017485:1-Deoxynojirimycin; C059896:miglustat; D005964:Glucosyltransferases; C023246:ceramide glucosyltransferase; D006596:Hexosaminidases; C086400:chitotriosidase; D005962:Glucosylceramidase