Sistema de Salut de Catalunya
Institut Català de la Salut
[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
Vall d'Hebron Barcelona Hospital Campus
2024-11-25T08:03:45Z
2024-11-25T08:03:45Z
2024-11
Premature; Spinal muscular atrophy
Prematurs; Atròfia muscular espinal
Prematuros; Atrofia muscular espinal
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.
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).
Article
Published version
English
Atròfia muscular espinal - Aspectes genètics; Atròfia muscular espinal - Teràpia genètica; Anomalies cromosòmiques; Infants prematurs; 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::Infant, Premature; PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation; 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::recién nacido prematuro; FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética
Wiley
Annals of Clinical and Translational Neurology;11(11)
https://doi.org/10.1002/acn3.52213
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
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