Sistema de Salut de Catalunya
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
2024-03-26T12:38:16Z
2024-03-26T12:38:16Z
2024-03-05
Motor neuron disease; Newborn screening; Spinal muscular atrophy
Enfermedad de la neurona motora; Cribado neonatal; Atrofia muscular espinal
Malaltia de la neurona motora; Cribratge neonatal; Atròfia muscular espinal
Background: 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.
Article
Published version
English
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
IOS Press
Journal of Neuromuscular Diseases;11(2)
http://www.doi.org/10.3233/JND-230122
Attribution-NonCommercial 4.0 International
http://creativecommons.org/licenses/by-nc/4.0/
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