Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

Data de publicació: 22/10/2023 Data Ahead of Print: 22/10/2023

Autors de IIS La Fe

• Patricia Correcher Medina

  Autor

Autors aliens a IIS La Fe

• Stanescu, Sinziana
• del Castillo, Francisco J.
• Alonso Luengo, Olga
• Arto Millan, Luis Maria
• Belanger Quintana, Amaya
• Camprodon Gomez, Maria
• Diez Langhetee, Lydia
• Garcia Campos, Oscar
• Matas Garcia, Ana
• Perez-Moreno, Jimena
• Rubio Gribble, Barbara
• Visa-Rene, Nuria
• Giraldo-Castellano, Pilar
• O'Callaghan Gordo, Mar

Grups d'Investigació

• Nutrición y Metabolopatías

  Investigador Principal

  Patricia Correcher Medina

• Perinatología

  

  Leader

  Máximo Vento Torres

Abstract

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.

Keywords

• Gaucher disease type 3; treatment; mutations; clinical manifestations