Elexacaftor/tezacaftor/ivacaftor in children aged ≥6 years with cystic fibrosis heterozygous for F508del and a minimal function mutation: results from a 96-week open-label extension study

Children; Cystic fibrosis; Mutation

Detalles Bibliográficos
Autores: Mall, Marcus, Wainwright, Claire, Legg, Julian, Chilvers, Mark, Dittrich, Anna-Maria, Gartner, Silvia
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:11351/13876
Acceso en línea:http://hdl.handle.net/11351/13876
Access Level:acceso abierto
Palabra clave:Avaluació de resultats (Assistència sanitària)
Anomalies cromosòmiques
Fibrosi quística - Tractament
Pulmons - Malalties
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
DISEASES::Digestive System Diseases::Pancreatic Diseases::Cystic Fibrosis
DISEASES::Respiratory Tract Diseases::Lung Diseases::Cystic Fibrosis
CHEMICALS AND DRUGS::Pharmaceutical Preparations::Drug Combinations
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
ENFERMEDADES::enfermedades del sistema digestivo::enfermedades pancreáticas::fibrosis quística
ENFERMEDADES::enfermedades respiratorias::enfermedades pulmonares::fibrosis quística
COMPUESTOS QUÍMICOS Y DROGAS::preparados farmacéuticos::combinaciones de fármacos
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oai_identifier_str oai:recercat.cat:11351/13876
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Elexacaftor/tezacaftor/ivacaftor in children aged ≥6 years with cystic fibrosis heterozygous for F508del and a minimal function mutation: results from a 96-week open-label extension study
title Elexacaftor/tezacaftor/ivacaftor in children aged ≥6 years with cystic fibrosis heterozygous for F508del and a minimal function mutation: results from a 96-week open-label extension study
spellingShingle Elexacaftor/tezacaftor/ivacaftor in children aged ≥6 years with cystic fibrosis heterozygous for F508del and a minimal function mutation: results from a 96-week open-label extension study
Mall, Marcus
Avaluació de resultats (Assistència sanitària)
Anomalies cromosòmiques
Fibrosi quística - Tractament
Pulmons - Malalties
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
DISEASES::Digestive System Diseases::Pancreatic Diseases::Cystic Fibrosis
DISEASES::Respiratory Tract Diseases::Lung Diseases::Cystic Fibrosis
CHEMICALS AND DRUGS::Pharmaceutical Preparations::Drug Combinations
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
ENFERMEDADES::enfermedades del sistema digestivo::enfermedades pancreáticas::fibrosis quística
ENFERMEDADES::enfermedades respiratorias::enfermedades pulmonares::fibrosis quística
COMPUESTOS QUÍMICOS Y DROGAS::preparados farmacéuticos::combinaciones de fármacos
title_short Elexacaftor/tezacaftor/ivacaftor in children aged ≥6 years with cystic fibrosis heterozygous for F508del and a minimal function mutation: results from a 96-week open-label extension study
title_full Elexacaftor/tezacaftor/ivacaftor in children aged ≥6 years with cystic fibrosis heterozygous for F508del and a minimal function mutation: results from a 96-week open-label extension study
title_fullStr Elexacaftor/tezacaftor/ivacaftor in children aged ≥6 years with cystic fibrosis heterozygous for F508del and a minimal function mutation: results from a 96-week open-label extension study
title_full_unstemmed Elexacaftor/tezacaftor/ivacaftor in children aged ≥6 years with cystic fibrosis heterozygous for F508del and a minimal function mutation: results from a 96-week open-label extension study
title_sort Elexacaftor/tezacaftor/ivacaftor in children aged ≥6 years with cystic fibrosis heterozygous for F508del and a minimal function mutation: results from a 96-week open-label extension study
dc.creator.none.fl_str_mv Mall, Marcus
Wainwright, Claire
Legg, Julian
Chilvers, Mark
Dittrich, Anna-Maria
Gartner, Silvia
author Mall, Marcus
author_facet Mall, Marcus
Wainwright, Claire
Legg, Julian
Chilvers, Mark
Dittrich, Anna-Maria
Gartner, Silvia
author_role author
author2 Wainwright, Claire
Legg, Julian
Chilvers, Mark
Dittrich, Anna-Maria
Gartner, Silvia
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Mall MA] Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité – Universitätsmedizin Berlin, Berlin, Germany. German Center for Child and Adolescent Health (DZKJ), partner site, Berlin, Germany. German Center for Lung Research (DZL), associated partner site Berlin, Berlin, Germany. [Wainwright CE] Queensland Children’s Hospital, University of Queensland, South Brisbane, Australia. [Legg J] National Institute for Health Research, Southampton Respiratory Biomedical Research Centre, University Hospitals Southampton NHS Foundation Trust, Southampton, UK. Southampton Children’s Hospital, University Hospitals Southampton NHS Foundation Trust, Southampton, UK. [Chilvers M] British Columbia Children’s Hospital, University of British Columbia, Vancouver, BC, Canada. [Gartner S] Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Dittrich AM] Department for Pediatric Pulmonology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany. BREATH, German Center for Lung Research (DZL), Hannover, Germany
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Avaluació de resultats (Assistència sanitària)
Anomalies cromosòmiques
Fibrosi quística - Tractament
Pulmons - Malalties
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
DISEASES::Digestive System Diseases::Pancreatic Diseases::Cystic Fibrosis
DISEASES::Respiratory Tract Diseases::Lung Diseases::Cystic Fibrosis
CHEMICALS AND DRUGS::Pharmaceutical Preparations::Drug Combinations
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
ENFERMEDADES::enfermedades del sistema digestivo::enfermedades pancreáticas::fibrosis quística
ENFERMEDADES::enfermedades respiratorias::enfermedades pulmonares::fibrosis quística
COMPUESTOS QUÍMICOS Y DROGAS::preparados farmacéuticos::combinaciones de fármacos
topic Avaluació de resultats (Assistència sanitària)
Anomalies cromosòmiques
Fibrosi quística - Tractament
Pulmons - Malalties
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
DISEASES::Digestive System Diseases::Pancreatic Diseases::Cystic Fibrosis
DISEASES::Respiratory Tract Diseases::Lung Diseases::Cystic Fibrosis
CHEMICALS AND DRUGS::Pharmaceutical Preparations::Drug Combinations
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
ENFERMEDADES::enfermedades del sistema digestivo::enfermedades pancreáticas::fibrosis quística
ENFERMEDADES::enfermedades respiratorias::enfermedades pulmonares::fibrosis quística
COMPUESTOS QUÍMICOS Y DROGAS::preparados farmacéuticos::combinaciones de fármacos
description Children; Cystic fibrosis; Mutation
publishDate 2025
dc.date.none.fl_str_mv 2025
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11351/13876
http://hdl.handle.net/11351/13876
url http://hdl.handle.net/11351/13876
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv European Respiratory Journal;66(1)
https://doi.org/10.1183/13993003.02435-2024
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv European Respiratory Society
publisher.none.fl_str_mv European Respiratory Society
dc.source.none.fl_str_mv Scientia
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling Elexacaftor/tezacaftor/ivacaftor in children aged ≥6 years with cystic fibrosis heterozygous for F508del and a minimal function mutation: results from a 96-week open-label extension studyMall, MarcusWainwright, ClaireLegg, JulianChilvers, MarkDittrich, Anna-MariaGartner, SilviaAvaluació de resultats (Assistència sanitària)Anomalies cromosòmiquesFibrosi quística - TractamentPulmons - MalaltiesANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment OutcomePHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::MutationDISEASES::Digestive System Diseases::Pancreatic Diseases::Cystic FibrosisDISEASES::Respiratory Tract Diseases::Lung Diseases::Cystic FibrosisCHEMICALS AND DRUGS::Pharmaceutical Preparations::Drug CombinationsTÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamientoFENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutaciónENFERMEDADES::enfermedades del sistema digestivo::enfermedades pancreáticas::fibrosis quísticaENFERMEDADES::enfermedades respiratorias::enfermedades pulmonares::fibrosis quísticaCOMPUESTOS QUÍMICOS Y DROGAS::preparados farmacéuticos::combinaciones de fármacosChildren; Cystic fibrosis; MutationNens; Fibrosi quística; MutacióNiños; Fibrosis quística; MutaciónBackground: Elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) was efficacious and safe in children aged 6-11 years with cystic fibrosis (CF) heterozygous for F508del and a minimal function CF transmembrane conductance regulator (CFTR) variant (F/MF genotypes) in a 24-week, placebo-controlled trial. We conducted a 96-week open-label extension study for children who completed the 24-week parent study. Methods: In this phase 3b extension study, dosing was based on weight and age, with children weighing <30 kg and aged <12 years receiving ELX 100 mg once daily, TEZ 50 mg once daily and IVA 75 mg every 12 h, and children ≥30 kg or ≥12 years receiving ELX 200 mg once daily, TEZ 100 mg once daily and IVA 150 mg every 12 h. The primary end-point was safety and tolerability. Secondary and other efficacy end-points included absolute changes from parent study baseline in sweat chloride concentration, lung clearance index (LCI2.5), percentage predicted forced expiratory volume in 1 s (FEV1) and Cystic Fibrosis Questionnaire-Revised (CFQ-R) respiratory domain score. Results: A total of 120 children were enrolled and dosed. 118 children (98.3%) had adverse events (AEs), which for most were mild (43.3%) or moderate (48.3%) in severity. The most common AEs (≥20% of children) were COVID-19 (58.3%), cough (51.7%), nasopharyngitis (45.0%), pyrexia (40.0%), headache (37.5%), upper respiratory tract infection (30.8%), oropharyngeal pain (26.7%), rhinitis (24.2%), abdominal pain (22.5%) and vomiting (20.0%). Children who transitioned from the placebo and ELX/TEZ/IVA groups of the parent study had improvements from parent study baseline at Week 96 in mean sweat chloride concentration (-57.3 (95% CI -61.6- -52.9) and -57.5 (95% CI -62.0- -53.0) mmol·L-1), LCI2.5 (-1.74 (95% CI -2.09- -1.38) and -2.35 (95% CI -2.72- -1.97) units), FEV1 % pred (6.1 (95% CI 2.6-9.7) and 6.9 (95% CI 3.2-10.5) percentage points) and CFQ-R respiratory domain score (6.6 (95% CI 2.5-10.8) and 2.6 (95% CI -1.6-6.8) points). Conclusions: ELX/TEZ/IVA treatment was generally safe and well tolerated, with a safety profile consistent with the parent study and older age groups. After starting ELX/TEZ/IVA, children had robust improvements in sweat chloride concentration and lung function that were maintained through 96 weeks. These results demonstrate the safety and durable efficacy of ELX/TEZ/IVA in this paediatric population.This study was funded by Vertex Pharmaceuticals Incorporated. Supported by the National Institute of Health and Care Research through the Imperial Biomedical Research Centre, the Brompton Clinical Research Facility and a Senior Investigator Award (to J.C. Davies).European Respiratory SocietyInstitut Català de la Salut[Mall MA] Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité – Universitätsmedizin Berlin, Berlin, Germany. German Center for Child and Adolescent Health (DZKJ), partner site, Berlin, Germany. German Center for Lung Research (DZL), associated partner site Berlin, Berlin, Germany. [Wainwright CE] Queensland Children’s Hospital, University of Queensland, South Brisbane, Australia. [Legg J] National Institute for Health Research, Southampton Respiratory Biomedical Research Centre, University Hospitals Southampton NHS Foundation Trust, Southampton, UK. Southampton Children’s Hospital, University Hospitals Southampton NHS Foundation Trust, Southampton, UK. [Chilvers M] British Columbia Children’s Hospital, University of British Columbia, Vancouver, BC, Canada. [Gartner S] Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Dittrich AM] Department for Pediatric Pulmonology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany. BREATH, German Center for Lung Research (DZL), Hannover, GermanyVall d'Hebron Barcelona Hospital Campus202520252025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/11351/13876http://hdl.handle.net/11351/13876Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésEuropean Respiratory Journal;66(1)https://doi.org/10.1183/13993003.02435-2024Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/138762026-05-29T05:05:01Z
score 15,812429

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