2026-04-17T05:28:23Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/105872025-10-24T10:26:33Zcom_2072_378070com_2072_378040col_2072_378092

2025-10-24T10:26:33Z urn:hdl:11351/10587 Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study Stanescu, Sinziana Correcher, Patricia del Castillo, Francisco J. Alonso Luengo, Olga Arto Millan, Luis Maria Bélanger-Quintana, Amaya Camprodon Gomez, Maria Malalties rares Gaucher, Malaltia de - Tractament Gaucher, Malaltia de - Aspectes genètics DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Brain Diseases, Metabolic, Inborn::Lysosomal Storage Diseases, Nervous System::Sphingolipidoses::Gaucher Disease Other subheadings::Other subheadings::Other subheadings::/genetics HEALTH CARE::Health Services Administration::Patient Care Management::Disease Management ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades cerebrales metabólicas congénitas::enfermedades por almacenamiento lisosómico del sistema nervioso::esfingolipidosis::enfermedad de Gaucher Otros calificadores::Otros calificadores::Otros calificadores::/genética ATENCIÓN DE SALUD::administración de los servicios de salud::gestión de la atención al paciente::tratamiento de las enfermedades Gaucher disease type 3; Clinical manifestations; Mutations Enfermedad de Gaucher tipo 3; Manifestaciones clínicas; Mutaciones Malaltia de Gaucher tipus 3; Manifestacions clíniques; Mutacions This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses. A total of 19 patients with GD3 from 10 Spanish hospitals were enrolled in the study (14 men, 5 women). The median age at disease onset and diagnosis was 1 and 1.2 years, respectively, and the mean age at follow-up completion was 12.37 years (range: 1-25 years). Most patients exhibited splenomegaly (18/19) and hepatomegaly (17/19) at the time of diagnosis. The most frequent neurological abnormalities at onset were psychomotor retardation (14/19) and extrinsic muscle disorders (11/19), including oculomotor apraxia, supranuclear palsy, and strabismus. The L444P (c.1448T>C) allele was predominant, with the L444P (c.1448T>C) homozygous genotype mainly associated with visceral manifestations like hepatosplenomegaly, anemia, and thrombocytopenia. All patients received enzyme replacement therapy (ERT); other treatments included miglustat and the chaperone (ambroxol). Visceral manifestations, including hepatosplenomegaly and hematological and bone manifestations, were mostly controlled with ERT, except for kyphosis. The data from this study may help to increase the evidence base on this rare disease and contribute to improving the clinical management of GD3 patients. This research was funded by Sanofi Spain. 2025-10-24T10:26:33Z 2025-10-24T10:26:33Z 2023-11-09T13:22:36Z 2023-11-09T13:22:36Z 2023-10-22 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/10587 Biomedicines;11(10) https://doi.org/10.3390/biomedicines11102861 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess MDPI Scientia