Giraldo, PilarAndrade-Campos, MarcioAlfonso, PilarIrun, PilarAtutxa, KoldoAcedo, AntonioBarez, AbelardoBlanes, MargaritaDiaz-Morant, VicenteFernández-Galán, Ma AngelesFranco, RafaelGil-Cortes, CristinaGiner, VicenteIbañez, AngelaLatre, PazLoyola, InesLuño, ElisaHernández-Martin, RobertoMedrano-Engay, BlancaPuerta, JoséRoig, Inmaculadade la Serna, JavierSalamero, OlgaVillalón, LuciaPocovi, Miguel2023-01-252023-01-252016-10-24http://hdl.handle.net/10668/10599We report data from a prospective, observational study (ZAGAL) evaluating miglustat 100mg three times daily orally. in treatment-naïve patients and patients with type 1 Gaucher Disease (GD1) switched from previous enzyme replacement therapy (ERT). Clinical evolution, changes in organ size, blood counts, disease biomarkers, bone marrow infiltration (S-MRI), bone mineral density by broadband ultrasound densitometry (BMD), safety and tolerability annual reports were analysed. Between May 2004 and April 2016, 63 patients received miglustat therapy; 20 (32%) untreated and 43 (68%) switched. At the time of this report 39 patients (14 [36%] treatment-naïve; 25 [64%] switch) remain on miglustat. With over 12-year follow-up, hematologic counts, liver and spleen volumes remained stable. In total, 80% of patients achieved current GD1 therapeutic goals. Plasma chitotriosidase activity and CCL-18/PARC concentration showed a trend towards a slight increase. Reductions on S-MRI (p=0.042) with an increase in BMD (penEfficacyGaucher disease type 1MaintenanceMiglustatSafety1-DeoxynojirimycinAdolescentAdultAgedFemaleFollow-Up StudiesGaucher DiseaseGlycoside Hydrolase InhibitorsHumansLiverMaleMiddle AgedOrgan SizeProspective StudiesSpleenYoung Adultresearch article27836529open access10.1016/j.bcmd.2016.10.0171096-0961https://zaguan.unizar.es/record/78249/files/texto_completo.pdf