Publications by authors named "Maria Angeles Fernandez-Galan"
Background: The availability of multiple treatments for type 1 Gaucher disease increases the need for real-life studies to evaluate treatment efficacy and safety and provide clinicians with more information to choose the best personalized therapy for their patients.
Aims: To determine whether treatment with eliglustat produces, in adult GD1 patients, ans optimal response in daily clinical practice.
Methods: We designed a real-life study with 2 years of follow-up (TRAZELGA [GEE-ELI-2017-01]) to uniformly evaluate the response and adverse events to eliglustat treatment.
Article Synopsis
- Enzymatic replacement therapy (ERT) has significantly improved early diagnosis and management of Gaucher disease (GD) in pediatric patients since its introduction in Spain in 1993, with 386 patients registered in the Spanish Registry of Gaucher Disease.
- The study reviewed data from 98 pediatric patients, revealing that those diagnosed after 1995 had earlier diagnoses and were generally less severe than those diagnosed before 1994, who demonstrated worse complications at presentation.
- Patients in the later cohort (≥1995) started ERT much sooner after diagnosis compared to earlier diagnosed patients (1.6 years vs. 5.2 years), indicating an overall improvement in treatment timing and outcomes for pediatric GD cases.