dc.contributor
Institut Català de la Salut
dc.contributor
[Brown SM] Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. [Ajjarapu AS] Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA. [Ramachandra D] Department of Genetics, Advocate Children’s Hospital, Oak Lawn, Illinois, USA. [Blasco-Pérez L, Costa-Roger M, Tizzano EF] Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Brown, Stephen M.
dc.contributor.author
Ajjarapu, Aparna S.
dc.contributor.author
Ramachandra, Divya
dc.contributor.author
Blasco Pérez, Laura
dc.contributor.author
Costa Roger, Mar
dc.contributor.author
TIZZANO, EDUARDO F.
dc.date.accessioned
2024-11-26T08:23:56Z
dc.date.available
2024-11-26T08:23:56Z
dc.date.issued
2024-11-25T08:03:45Z
dc.date.issued
2024-11-25T08:03:45Z
dc.identifier
Brown SM, Ajjarapu AS, Ramachandra D, Blasco-Pérez L, Costa-Roger M, Tizzano EF, et al. Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy. Ann Clin Transl Neurol. 2024 Nov;11(11):3042–6.
dc.identifier
https://hdl.handle.net/11351/12258
dc.identifier
10.1002/acn3.52213
dc.identifier
001322345900001
dc.identifier.uri
http://hdl.handle.net/11351/12258
dc.description.abstract
Premature; Spinal muscular atrophy
dc.description.abstract
Prematurs; Atròfia muscular espinal
dc.description.abstract
Prematuros; Atrofia muscular espinal
dc.description.abstract
Twin girls born at 30 weeks' gestation with spinal muscular atrophy (SMA) received onsasemnogene-abeparvovec (OA) at 3.5 weeks of life. They had no treatment-related adverse events, normal acquisition of motor milestones, and normal neurological examination at 19 months. Genotyping revealed 0 copies of SMN1 and a single, hybrid SMN2 gene containing the positive genetic modifier c.835-44A>G. This was associated with full-length SMN2 blood mRNA expression levels similar to a 2 copy SMA infant. The observed favorable outcomes are likely due to the genetic modifier combined with early drug administration enabled by prematurity.
dc.description.abstract
This work was supported in part by a Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center grant from the NINDS of the National Institutes of Health P50NS053672 (KDM, ASA) and NINDS R35 NS122306 (CJS).
dc.format
application/pdf
dc.relation
Annals of Clinical and Translational Neurology;11(11)
dc.relation
https://doi.org/10.1002/acn3.52213
dc.rights
Attribution-NonCommercial-NoDerivatives 4.0 International
dc.rights
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Atròfia muscular espinal - Aspectes genètics
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Atròfia muscular espinal - Teràpia genètica
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Anomalies cromosòmiques
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Infants prematurs
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DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
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Other subheadings::Other subheadings::Other subheadings::/drug therapy
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NAMED GROUPS::Persons::Age Groups::Infant::Infant, Newborn::Infant, Premature
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PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
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ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy
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ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
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Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia
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DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante::recién nacido::recién nacido prematuro
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FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
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TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética
dc.title
Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
