{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T02:29:09Z","timestamp":1790216949089,"version":"4.1.0"},"reference-count":44,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2025,7,8]],"date-time":"2025-07-08T00:00:00Z","timestamp":1751932800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,7,8]],"date-time":"2025-07-08T00:00:00Z","timestamp":1751932800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Spinal muscular atrophy (SMA) is a severe neurodegenerative disease affecting children. Three innovative disease-modifying therapies (DMTs)\u2014nusinersen, risdiplam, and onasemnogene abeparvovec\u2014are available for treatment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To provide a descriptive overview of patients enrolled in the\n                      <jats:italic toggle=\"yes\">Registre SMA France<\/jats:italic>\n                      until July 22, 2024.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">Registre SMA France<\/jats:italic>\n                      is a multicenter, national observational registry that includes patients with SMA\u2014children and adults, treated or untreated. Data collection began retrospectively in 2016 and prospectively in 2020, with a 10-year follow-up plan. The coordinating center is the neuropediatric department of Garches Hospital (AP-HP), while methodological and, regulatory and operational management, are provided by the Clinical Research Unit of AP-HP Paris-Saclay. Financial support is provided through unrestricted grants from Biogen, Novartis, and Roche. Data on patient characteristics, medical and surgical follow-up, treatments, adverse events, and quality of life are recorded via structured forms, with additional modules developed as required (e.g., hematological monitoring post-gene therapy in 2021). Data quality is ensured through routine checks and periodic monitoring.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>By July 22, 2024, 1299 patients from 59 centers were enrolled (299 SMA1, 502 SMA2, 469 SMA3, 19 SMA4, 10 presymptomatic). Of these, 76.2% received DMT (nusinersen: 46.1%, risdiplam: 23.2%, onasemnogene abeparvovec: 9.2%), with 21.5% undergoing sequential or combination therapy. Major complications included ventilatory support (SMA1: 69.9%, SMA2: 64.5%, SMA3: 18.1%), enteral feeding (SMA1: 56.2%SMA1), and spine surgery (SMA2: 24.5%). Survival was significantly higher in treated SMA1 and SMA2 cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This registry serves as a key resource for understanding the clinical course and treatment outcomes of SMA in the real world, supporting future research and informing clinical and policy decisions in the era of DMTs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Trial registration<\/jats:title>\n                    <jats:p>NCT04177134.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602251353446","type":"journal-article","created":{"date-parts":[[2025,7,8]],"date-time":"2025-07-08T04:22:03Z","timestamp":1751948523000},"page":"793-803","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France"],"prefix":"10.1177","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1952-5467","authenticated-orcid":false,"given":"Lamiae","family":"Grimaldi","sequence":"first","affiliation":[{"name":"Clinical Research Unit, Assistance Publique - H\u00f4pitaux de Paris University Paris-Saclay, Faculty of Medicine, University of Versailles Saint-Quentin en Yvelines, Inserm U1018 Team Anti-infective evasion and pharmacoepidemiology, Boulogne-Billancourt, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5402-4883","authenticated-orcid":false,"given":"Rocio","family":"Garcia-Uzquiano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and ICU Department, Garches Reference Centre for Neuromuscular Diseases (NEIF for FILNEMUS; RPC for Euro-NMD ERN), AP-HP Paris Saclay University, H\u00f4pital Raymond Poincar\u00e9 (UVSQ), 104 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