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

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

Department: Medicina i Cirurgia

URV's Author/s: López Dupla, Jesús Miguel

Keywords: Ykl-40 Velaglucerase alpha Type-1 Type 1 gaucher disease Stability Sf-36 Plasma chitotriosidase activity Marked elevation Lipocalin-2 Involvement Glucosylsphingosine Expression Eliglustat Eliglusta Dysregulation Biomarkers Biomarke

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 41.5 years 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.

Thematic Areas: Saúde coletiva Pharmacology (medical) Odontología Medicine, research & experimental Medicine (miscellaneous) Medicina iii Medicina ii Medicina i Genetics (clinical) Genetics & heredity General medicine Farmacia Engenharias iv Ciências biológicas ii Ciências biológicas i

licence for use: https://creativecommons.org/licenses/by/3.0/es/

Author's mail: jesusmiguel.lopez@urv.cat

Author identifier: 0000-0002-9141-2523

Record's date: 2025-02-19

Paper version: info:eu-repo/semantics/publishedVersion

Paper original source: Orphanet Journal Of Rare Diseases. 18 (1): 390-

APA: Serrano-Gonzalo, Irene; Lopez de Frutos, Laura; Lahoz-Gil, Carlos; Delgado-Mateos, Francisco; Angeles Fernandez-Galan, Maria; Morales-Conejo, Montserr (2023). Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project. Orphanet Journal Of Rare Diseases, 18(1), 390-. DOI: 10.1186/s13023-023-02939-4

Licence document URL: https://repositori.urv.cat/ca/proteccio-de-dades/

Entity: Universitat Rovira i Virgili

Journal publication year: 2023

Publication Type: Journal Publications