Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.

Fecha de publicación: 15/12/2023 Fecha Ahead of Print: 15/12/2023

Autores de IIS La Fe

Patricia Correcher Medina

Autor
Elvira Mora Castera

Autor
Isidro Vitoria Miñana

Autor

Participantes ajenos a IIS La Fe

Serrano-Gonzalo, Irene
de Frutos, Laura Lopez
Lahoz-Gil, Carlos
Delgado-Mateos, Francisco
Fernandez-Galan, Maria Angeles
Morales-Conejo, Montserrat
Calle-Gordo, Maria Victoria
Ibarretxe-Gerediaga, Daiana
Madinaveitia-Ochoa, Andres
Albarracin-Arraigosa, Antonio
Balanzat-Munoz, Jose
Garcia-Frade, Luis Javier
Hernandez-Rivas, Jesus Maria
Labbadia, Francesca
Lopez-Dupla, Jesus Miguel
Lozano-Almela, Maria Luisa
Noya-Pereira, Maria Soledad
Ruiz-Guinaldo, Maria Angeles
del Mar Tormo-Diaz, Maria
Arevalo-Vargas, Isidro
Andrade-Campos, Marcio
Giraldo, Pilar

Grupos

Hematología y Hemoterapia

Investigador Principal

Javier De La Rubia Comos
Nutrición y Metabolopatías

Investigador Principal

Patricia Correcher Medina
Perinatología

Leader

Máximo Vento Torres

Abstract

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. This study, conducted in 30 patients across Spain and previously treated with other therapies, included the evaluation of safety and efficacy by assessing visceral enlargement, bone disease (DEXA and T and Z scores), concomitant treatments and adverse events, as well as a quality of life evaluation (SF-36). In addition, the quantification of classical biomarkers (chitotriosidase activity, CCL18/PARC and glucosylsphingosine (GluSph)) and new candidates for GD biomarkers (YKL-40, cathepsin S, hepcidin and lipocalin-2 determined by immunoassay) were also assessed. Non-parametric statistical analysis was performed and p<0.05 was considered statistically significant. MAIN RESULTS: Thirty patients were enrolled in the study. The median age was 41.5years and the male-female ratio was 1.1:1. 84% of the patients had received ERT and 16% SRT as previous treatment. The most common symptoms at baseline were fatigue (42%) and bone pain (38%), no patient had a bone crisis during the study, and two years after switching, 37% had reduced their use of analgesics. Patient-reported outcomes showed a significant increase in physical function scores (p=0.027) and physical pain scores (p=0.010). None of the enrolled patients discontinued treatment due to adverse events, which were mild and transient in nature, mainly gastrointestinal and skin dryness. None of the biomarkers show a significant increase or decompensation after switching. CCL18/PARC (p=0.0012), YKL-40 (p=0.00004) and lipocalin-2 (p=0.0155) improved after two years and GluSph after one year (p=0.0008) and two years (p=0.0245) of oral therapy. CONCLUSION: In summary, this real-life study, showed that eliglustat maintains stability and can improve quality of life with few side effects. Significant reductions in classic and other novel biomarkers were observed after two years of therapy.