2026-04-13T04:04:42Zhttps://recercat.cat/oai/requestoai:recercat.cat:11351/112472025-10-24T10:19:42Zcom_2072_378070com_2072_378040col_2072_378092
RECERCAT
author
Servais, Laurent
author
Day, John
author
Mercuri, Eugenio
author
De Vivo, Darryl
author
Kirschner, Janbernd
author
Muntoni, Francesco
author
TIZZANO, EDUARDO F.
2025-10-24T10:19:42Z
2025-10-24T10:19:42Z
2024-03-26T12:38:16Z2024-03-26T12:38:16Z2024-03-05
http://hdl.handle.net/11351/11247
Motor 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.
Attribution-NonCommercial 4.0 International http://creativecommons.org/licenses/by-nc/4.0/ info:eu-repo/semantics/openAccess
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
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion