Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry

Motor neuron disease; Newborn screening; Spinal muscular atrophy

Detalhes bibliográficos
Autores: Servais, Laurent, Day, John, Mercuri, Eugenio, De Vivo, Darryl, Kirschner, Janbernd, Muntoni, Francesco, TIZZANO, EDUARDO F.
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Recursos: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:11351/11247
Acesso em linha:https://hdl.handle.net/11351/11247
http://hdl.handle.net/11351/11247
Access Level:acceso abierto
Palavra-chave:Atròfia muscular espinal - Tractament
Teràpia genètica
Infants nadons
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
Other subheadings::Other subheadings::Other subheadings::/drug therapy
NAMED GROUPS::Persons::Age Groups::Infant::Infant, Newborn
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia
DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante::recién nacido
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética
id ES_e23abf55fc41e421e92dc34fca674439
oai_identifier_str oai:recercat.cat:11351/11247
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
title Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
spellingShingle Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
Servais, Laurent
Atròfia muscular espinal - Tractament
Teràpia genètica
Infants nadons
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
Other subheadings::Other subheadings::Other subheadings::/drug therapy
NAMED GROUPS::Persons::Age Groups::Infant::Infant, Newborn
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia
DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante::recién nacido
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética
title_short Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
title_full Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
title_fullStr Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
title_full_unstemmed Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
title_sort Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
dc.creator.none.fl_str_mv Servais, Laurent
Day, John
Mercuri, Eugenio
De Vivo, Darryl
Kirschner, Janbernd
Muntoni, Francesco
TIZZANO, EDUARDO F.
author Servais, Laurent
author_facet Servais, Laurent
Day, John
Mercuri, Eugenio
De Vivo, Darryl
Kirschner, Janbernd
Muntoni, Francesco
TIZZANO, EDUARDO F.
author_role author
author2 Day, John
Mercuri, Eugenio
De Vivo, Darryl
Kirschner, Janbernd
Muntoni, Francesco
TIZZANO, EDUARDO F.
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Servais L] MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK. Department of Paediatrics, Neuromuscular Reference Center, University and University Hospital of Liège, Liège, Belgium. [Day JW] Department of Neurology, Stanford University Medical Center, Stanford, CA, USA. [De Vivo DC] Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, USA. [Kirschner J] Department for Neuropediatrics and Muscle Disease, Medical Center – University of Freiburg, Faculty of Medicine, Freiburg, Germany. [Mercuri E] Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy. [Muntoni F] The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK. National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London, UK. [Tizzano EF] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Atròfia muscular espinal - Tractament
Teràpia genètica
Infants nadons
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
Other subheadings::Other subheadings::Other subheadings::/drug therapy
NAMED GROUPS::Persons::Age Groups::Infant::Infant, Newborn
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia
DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante::recién nacido
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética
topic Atròfia muscular espinal - Tractament
Teràpia genètica
Infants nadons
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
Other subheadings::Other subheadings::Other subheadings::/drug therapy
NAMED GROUPS::Persons::Age Groups::Infant::Infant, Newborn
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia
DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante::recién nacido
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética
description Motor neuron disease; Newborn screening; Spinal muscular atrophy
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
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 https://hdl.handle.net/11351/11247
http://hdl.handle.net/11351/11247
url https://hdl.handle.net/11351/11247
http://hdl.handle.net/11351/11247
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Journal of Neuromuscular Diseases;11(2)
http://www.doi.org/10.3233/JND-230122
dc.rights.none.fl_str_mv Attribution-NonCommercial 4.0 International
http://creativecommons.org/licenses/by-nc/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution-NonCommercial 4.0 International
http://creativecommons.org/licenses/by-nc/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv IOS Press
publisher.none.fl_str_mv IOS Press
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
_version_ 1869422367075205120
spelling Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE RegistryServais, LaurentDay, JohnMercuri, EugenioDe Vivo, DarrylKirschner, JanberndMuntoni, FrancescoTIZZANO, EDUARDO F.Atròfia muscular espinal - TractamentTeràpia genèticaInfants nadonsDISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, SpinalOther subheadings::Other subheadings::Other subheadings::/drug therapyNAMED GROUPS::Persons::Age Groups::Infant::Infant, NewbornANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic TherapyENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinalOtros calificadores::Otros calificadores::Otros calificadores::/farmacoterapiaDENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante::recién nacidoTÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genéticaMotor neuron disease; Newborn screening; Spinal muscular atrophyEnfermedad de la neurona motora; Cribado neonatal; Atrofia muscular espinalMalaltia de la neurona motora; Cribratge neonatal; Atròfia muscular espinalBackground: Long-term, real-world effectiveness and safety data of disease-modifying treatments for spinal muscular atrophy (SMA) are important for assessing outcomes and providing information for a larger number and broader range of SMA patients than included in clinical trials. Objective: We sought to describe patients with SMA treated with onasemnogene abeparvovec monotherapy in the real-world setting. Methods: RESTORE is a prospective, multicenter, multinational, observational registry that captures data from a variety of sources. Results: Recruitment started in September 2018. As of May 23, 2022, data were available for 168 patients treated with onasemnogene abeparvovec monotherapy. Median (IQR) age at initial SMA diagnosis was 1 (0–6) month and at onasemnogene abeparvovec infusion was 3 (1–10) months. Eighty patients (47.6%) had two and 70 (41.7%) had three copies of SMN2, and 98 (58.3%) were identified by newborn screening. Infants identified by newborn screening had a lower age at final assessment (mean age 11.5 months) and greater mean final (SD) CHOP INTEND score (57.0 [10.0] points) compared with clinically diagnosed patients (23.1 months; 52.1 [8.0] points). All patients maintained/achieved motor milestones. 48.5% (n = 81/167) experienced at least one treatment-emergent adverse event (AE), and 31/167 patients (18.6%) experienced at least one serious AE, of which 8/31 were considered treatment-related. Conclusion: These real-world outcomes support findings from the interventional trial program and demonstrate effectiveness of onasemnogene abeparvovec over a large patient population, which was consistent with initial clinical data and published 5-year follow-up data. Observed AEs were consistent with the established safety profile of onasemnogene abeparvovec.All financial and material support for this research was provided by Novartis Gene Therapies, Inc.IOS PressInstitut Català de la Salut[Servais L] MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK. Department of Paediatrics, Neuromuscular Reference Center, University and University Hospital of Liège, Liège, Belgium. [Day JW] Department of Neurology, Stanford University Medical Center, Stanford, CA, USA. [De Vivo DC] Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, USA. [Kirschner J] Department for Neuropediatrics and Muscle Disease, Medical Center – University of Freiburg, Faculty of Medicine, Freiburg, Germany. [Mercuri E] Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy. [Muntoni F] The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK. National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London, UK. [Tizzano EF] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202420242024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/11247http://hdl.handle.net/11351/11247Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésJournal of Neuromuscular Diseases;11(2)http://www.doi.org/10.3233/JND-230122Attribution-NonCommercial 4.0 Internationalhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/112472026-05-29T05:05:01Z
score 15.812429

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