Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec

Onasemnogene abeparvovec; Spinal muscular atrophy; Survival motor neuron 2 gene

Detalles Bibliográficos
Autores: Quijano-Roy, Susana, Parsons, Julie, Aharoni, Sharon, Lakhotia, Arpita, TIZZANO, EDUARDO F., Servais, Laurent
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
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:11351/12149
Acceso en línea:https://hdl.handle.net/11351/12149
http://hdl.handle.net/11351/12149
Access Level:acceso abierto
Palabra clave:Avaluació de resultats (Assistència sanitària)
Atròfia muscular espinal - Teràpia genètica
Atròfia muscular espinal - Immunoteràpia
Infants
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy
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
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética
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
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oai_identifier_str oai:recercat.cat:11351/12149
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
title Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
spellingShingle Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
Quijano-Roy, Susana
Avaluació de resultats (Assistència sanitària)
Atròfia muscular espinal - Teràpia genètica
Atròfia muscular espinal - Immunoteràpia
Infants
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy
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
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética
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
title_short Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
title_full Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
title_fullStr Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
title_full_unstemmed Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
title_sort Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
dc.creator.none.fl_str_mv Quijano-Roy, Susana
Parsons, Julie
Aharoni, Sharon
Lakhotia, Arpita
TIZZANO, EDUARDO F.
Servais, Laurent
author Quijano-Roy, Susana
author_facet Quijano-Roy, Susana
Parsons, Julie
Aharoni, Sharon
Lakhotia, Arpita
TIZZANO, EDUARDO F.
Servais, Laurent
author_role author
author2 Parsons, Julie
Aharoni, Sharon
Lakhotia, Arpita
TIZZANO, EDUARDO F.
Servais, Laurent
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Tizzano EF] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Quijano-Roy S] Garches Neuromuscular Reference Center, APHP Raymond Poincaré University Hospital (UVSQ Paris Saclay), Garches, France. [Servais L] Department of Paediatrics, MDUK Oxford Neuromuscular Centre, & NIHR Oxford Biomedical Research, University of Oxford, Headly Way, Headington, Oxford, UK. Department of Pediatrics, Neuromuscular Reference Center, University and University Hospital of Liège, Bât. B35 Département des Sciences Cliniques, Quartier Hôpital, Liège, Belgium. [Parsons JA] Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA. [Aharoni S] Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel. Faculty of Medical and Health Sciences, Tel-Aviv University, Ramat Aviv, Tel Aviv, Israel. [Lakhotia A] University of Louisville, Norton Children's Medical Group, Louisville, KY, USA
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Avaluació de resultats (Assistència sanitària)
Atròfia muscular espinal - Teràpia genètica
Atròfia muscular espinal - Immunoteràpia
Infants
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy
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
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética
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
topic Avaluació de resultats (Assistència sanitària)
Atròfia muscular espinal - Teràpia genètica
Atròfia muscular espinal - Immunoteràpia
Infants
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy
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
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética
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
description Onasemnogene abeparvovec; Spinal muscular atrophy; Survival motor neuron 2 gene
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/11351/12149
http://hdl.handle.net/11351/12149
url https://hdl.handle.net/11351/12149
http://hdl.handle.net/11351/12149
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv European Journal of Paediatric Neurology;53
https://doi.org/10.1016/j.ejpn.2024.08.006
dc.rights.none.fl_str_mv Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
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 Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovecQuijano-Roy, SusanaParsons, JulieAharoni, SharonLakhotia, ArpitaTIZZANO, EDUARDO F.Servais, LaurentAvaluació de resultats (Assistència sanitària)Atròfia muscular espinal - Teràpia genèticaAtròfia muscular espinal - ImmunoteràpiaInfantsANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment OutcomeANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic TherapyDISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, SpinalOther subheadings::Other subheadings::Other subheadings::/drug therapyNAMED GROUPS::Persons::Age Groups::InfantTÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamientoTÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genéticaENFERMEDADES::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::lactanteOnasemnogene abeparvovec; Spinal muscular atrophy; Survival motor neuron 2 geneOnasemnogene abeparvovec; Atròfia muscular espinal; Gen de la neurona motora 2 de supervivènciaOnasemnogene abeparvovec; Atrofia muscular espinal; Gen de la neurona motora 2 de supervivenciaObjective: We describe outcomes following onasemnogene abeparvovec monotherapy for patients with ≥four survival motor neuron 2 (SMN2) gene copies in RESTORE, a noninterventional spinal muscular atrophy patient registry. Methods: We evaluated baseline characteristics, motor milestone achievement, post-treatment motor function, use of ventilatory/nutritional support, and adverse events as of December 22, 2022. Results: At data cutoff, 19 patients in RESTORE had ≥four SMN2 copies and were treated with onasemnogene abeparvovec monotherapy (n=12 [63.2%] four copies; n=7 [36.8%] >four copies). All patients were identified by newborn screening and were reported as asymptomatic at diagnosis. Median age at onasemnogene abeparvovec administration was 3.0 months. Median time from treatment to last recorded visit was 15.4 months, with a range of post-treatment follow-up of 0.03–39.4 months. All 12 children who were assessed for motor development achieved new milestones, including standing alone (n=2) and walking alone (n=5). Five children reported one or more treatment-emergent adverse events (one Grade 3 or greater). No deaths or use of ventilatory/nutritional support were reported. Conclusions: Real-world findings from the RESTORE registry indicate that patients with ≥four SMN2 gene copies treated with onasemnogene abeparvovec monotherapy demonstrated improvements in motor function. Adverse events experienced by these patients were consistent with previously reported findings.ElsevierInstitut Català de la Salut[Tizzano EF] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Quijano-Roy S] Garches Neuromuscular Reference Center, APHP Raymond Poincaré University Hospital (UVSQ Paris Saclay), Garches, France. [Servais L] Department of Paediatrics, MDUK Oxford Neuromuscular Centre, & NIHR Oxford Biomedical Research, University of Oxford, Headly Way, Headington, Oxford, UK. Department of Pediatrics, Neuromuscular Reference Center, University and University Hospital of Liège, Bât. B35 Département des Sciences Cliniques, Quartier Hôpital, Liège, Belgium. [Parsons JA] Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA. [Aharoni S] Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel. Faculty of Medical and Health Sciences, Tel-Aviv University, Ramat Aviv, Tel Aviv, Israel. [Lakhotia A] University of Louisville, Norton Children's Medical Group, Louisville, KY, USAVall d'Hebron Barcelona Hospital Campus202420242024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/12149http://hdl.handle.net/11351/12149Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésEuropean Journal of Paediatric Neurology;53https://doi.org/10.1016/j.ejpn.2024.08.006Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/121492026-05-29T05:05:01Z
score 15,812429

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