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

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 treatm...

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Autores: Serrano-Gonzalo, Irene, López de Frutos, Laura, Lahoz-Gil, Carlos, Delgado-Mateos, Francisco, Fernández-Galán, María Ángeles, Morales-Conejo, Montserrat, Calle-Gordo, María Victoria, Ibarretxe-Gerediaga, Daiana, Madinaveitia-Ochoa, Andrés, Albarracin-Arraigosa, Antonio, Balanzat-Muñoz, José, Correcher-Medina, Patricia, García-Frade, Luis Javier, Hernández-Rivas, Jesús María, Labbadia, Francesca, López-Dupla, Jesus Miguel, Lozano-Almela, María Luisa, Mora-Casterá, Elvira, Noya-Pereira, María Soledad, Ruíz-Guinaldo, María Ángeles, Tormo-Díaz, María del Mar, Vitoria-Miñana, Isidro, Arévalo-Vargas, Isidro, Andrade-Campos, Marcio, Giraldo, Pilar
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Conselleria de Salut i Consum del Govern de les Illes Balears
Repositorio:Docusalut
Idioma:inglés
OAI Identifier:oai:docusalut.com:20.500.13003/24957
Acceso en línea:https://hdl.handle.net/20.500.13003/24957
Access Level:acceso abierto
Palabra clave:Biomarkers
Lipocalin-2
Gaucher Disease
YKL
Biomarcadores
Lipocalina 2
Enfermedad de Gaucher
Eliglustat
Glucosylsphingosine
SF-36
Type 1 Gaucher disease
YKL-40
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spelling Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.Serrano-Gonzalo, IreneLópez de Frutos, LauraLahoz-Gil, CarlosDelgado-Mateos, FranciscoFernández-Galán, María ÁngelesMorales-Conejo, MontserratCalle-Gordo, María VictoriaIbarretxe-Gerediaga, DaianaMadinaveitia-Ochoa, AndrésAlbarracin-Arraigosa, AntonioBalanzat-Muñoz, JoséCorrecher-Medina, PatriciaGarcía-Frade, Luis JavierHernández-Rivas, Jesús MaríaLabbadia, FrancescaLópez-Dupla, Jesus MiguelLozano-Almela, María LuisaMora-Casterá, ElviraNoya-Pereira, María SoledadRuíz-Guinaldo, María ÁngelesTormo-Díaz, María del MarVitoria-Miñana, IsidroArévalo-Vargas, IsidroAndrade-Campos, MarcioGiraldo, PilarBiomarkersLipocalin-2Gaucher DiseaseYKLBiomarcadoresLipocalina 2Enfermedad de GaucherBiomarkersEliglustatGlucosylsphingosineLipocalin-2SF-36Type 1 Gaucher diseaseYKL-40Background: 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.BMC20232023-01-0120232023-01-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.13003/24957reponame:Docusalutinstname:Conselleria de Salut i Consum del Govern de les Illes BalearsInglésengopen accesshttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessoai:docusalut.com:20.500.13003/249572026-06-22T12:44:07Z
dc.title.none.fl_str_mv Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
title Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
spellingShingle Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
Serrano-Gonzalo, Irene
Biomarkers
Lipocalin-2
Gaucher Disease
YKL
Biomarcadores
Lipocalina 2
Enfermedad de Gaucher
Biomarkers
Eliglustat
Glucosylsphingosine
Lipocalin-2
SF-36
Type 1 Gaucher disease
YKL-40
title_short Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
title_full Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
title_fullStr Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
title_full_unstemmed Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
title_sort Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
dc.creator.none.fl_str_mv Serrano-Gonzalo, Irene
López de Frutos, Laura
Lahoz-Gil, Carlos
Delgado-Mateos, Francisco
Fernández-Galán, María Ángeles
Morales-Conejo, Montserrat
Calle-Gordo, María Victoria
Ibarretxe-Gerediaga, Daiana
Madinaveitia-Ochoa, Andrés
Albarracin-Arraigosa, Antonio
Balanzat-Muñoz, José
Correcher-Medina, Patricia
García-Frade, Luis Javier
Hernández-Rivas, Jesús María
Labbadia, Francesca
López-Dupla, Jesus Miguel
Lozano-Almela, María Luisa
Mora-Casterá, Elvira
Noya-Pereira, María Soledad
Ruíz-Guinaldo, María Ángeles
Tormo-Díaz, María del Mar
Vitoria-Miñana, Isidro
Arévalo-Vargas, Isidro
Andrade-Campos, Marcio
Giraldo, Pilar
author Serrano-Gonzalo, Irene
author_facet Serrano-Gonzalo, Irene
López de Frutos, Laura
Lahoz-Gil, Carlos
Delgado-Mateos, Francisco
Fernández-Galán, María Ángeles
Morales-Conejo, Montserrat
Calle-Gordo, María Victoria
Ibarretxe-Gerediaga, Daiana
Madinaveitia-Ochoa, Andrés
Albarracin-Arraigosa, Antonio
Balanzat-Muñoz, José
Correcher-Medina, Patricia
García-Frade, Luis Javier
Hernández-Rivas, Jesús María
Labbadia, Francesca
López-Dupla, Jesus Miguel
Lozano-Almela, María Luisa
Mora-Casterá, Elvira
Noya-Pereira, María Soledad
Ruíz-Guinaldo, María Ángeles
Tormo-Díaz, María del Mar
Vitoria-Miñana, Isidro
Arévalo-Vargas, Isidro
Andrade-Campos, Marcio
Giraldo, Pilar
author_role author
author2 López de Frutos, Laura
Lahoz-Gil, Carlos
Delgado-Mateos, Francisco
Fernández-Galán, María Ángeles
Morales-Conejo, Montserrat
Calle-Gordo, María Victoria
Ibarretxe-Gerediaga, Daiana
Madinaveitia-Ochoa, Andrés
Albarracin-Arraigosa, Antonio
Balanzat-Muñoz, José
Correcher-Medina, Patricia
García-Frade, Luis Javier
Hernández-Rivas, Jesús María
Labbadia, Francesca
López-Dupla, Jesus Miguel
Lozano-Almela, María Luisa
Mora-Casterá, Elvira
Noya-Pereira, María Soledad
Ruíz-Guinaldo, María Ángeles
Tormo-Díaz, María del Mar
Vitoria-Miñana, Isidro
Arévalo-Vargas, Isidro
Andrade-Campos, Marcio
Giraldo, Pilar
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv
dc.subject.none.fl_str_mv Biomarkers
Lipocalin-2
Gaucher Disease
YKL
Biomarcadores
Lipocalina 2
Enfermedad de Gaucher
Biomarkers
Eliglustat
Glucosylsphingosine
Lipocalin-2
SF-36
Type 1 Gaucher disease
YKL-40
topic Biomarkers
Lipocalin-2
Gaucher Disease
YKL
Biomarcadores
Lipocalina 2
Enfermedad de Gaucher
Biomarkers
Eliglustat
Glucosylsphingosine
Lipocalin-2
SF-36
Type 1 Gaucher disease
YKL-40
description 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.
publishDate 2023
dc.date.none.fl_str_mv 2023
2023-01-01
2023
2023-01-01
dc.type.none.fl_str_mv research article
http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/20.500.13003/24957
url https://hdl.handle.net/20.500.13003/24957
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BMC
publisher.none.fl_str_mv BMC
dc.source.none.fl_str_mv reponame:Docusalut
instname:Conselleria de Salut i Consum del Govern de les Illes Balears
instname_str Conselleria de Salut i Consum del Govern de les Illes Balears
reponame_str Docusalut
collection Docusalut
repository.name.fl_str_mv
repository.mail.fl_str_mv
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