{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T10:10:26Z","timestamp":1793355026460,"version":"4.5.0"},"reference-count":36,"publisher":"American Medical Association (AMA)","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Netw Open"],"abstract":"Importance<\/jats:title>Therapeutic advances have transformed the prognosis of spinal muscular atrophy (SMA). Given the lifelong implications of these innovative therapies, comparative data on their efficacy are urgently required.<\/jats:p><\/jats:sec>Objective<\/jats:title>To compare clinical outcomes of nusinersen and onasemnogene abeparvovec gene therapy as first-line treatments in children with SMA type 1 (SMA1).<\/jats:p><\/jats:sec>Design, Setting, and Participants<\/jats:title>This comparative effectiveness study used data from the French National SMA Registry from September 2016 to July 2024. The follow-up period started at treatment initiation and continued until July 22, 2024, or death. Children with genetically confirmed SMA1 (types a, b, or c) treated within 6 months of diagnosis with either nusinersen or gene therapy as first-line therapy and followed up for at least 24 months were included. Matching criteria included age, baseline score on the Children\u2019s Hospital of Philadelphia Infant Test of Neuromuscular Disorders, and respiratory and nutritional status at treatment initiation.<\/jats:p><\/jats:sec>Exposure<\/jats:title>First-line treatment with either nusinersen or gene therapy.<\/jats:p><\/jats:sec>Main Outcomes and Measures<\/jats:title>Outcomes included respiratory and nutritional support needs, motor function, and unsatisfactory clinical response (UCR)\u2014 a composite of death, treatment switch (or, for gene therapy, addition) due to inadequate response, initiation of feeding support, and\/or failure to achieve independent sitting.<\/jats:p><\/jats:sec>Results<\/jats:title>Among 1366 patients enrolled in the registry, 309 were diagnosed with SMA1. Twenty-four children in 12 matched pairs met inclusion criteria (14 [58%] male; mean [SD] age at treatment initiation, 6.1 [3.0] months [range, 2.3-11.9 months]). Three patients (1 receiving gene therapy [8%], 2 receiving nusinersen [17%]) died within the first year of treatment. At 2 years posttreatment, 1 of the 11 surviving patients treated with gene therapy (9%) required nutritional support vs 5 of 10 (50%) treated with nusinersen, and nocturnal ventilation was required in 5 of 11 (45%) receiving gene therapy vs 8 of 10 (80%) receiving nusinersen. Motor outcomes were comparable between groups (mean [SE] intrapair difference in CHOP-INTEND score evolution, \u22121.69 [1.24] points; P<\/jats:italic>\u2009=\u2009.17). UCR occurred in 8 of 12 patients (67%) receiving nusinersen and 3 of 12 (25%) receiving gene therapy.<\/jats:p><\/jats:sec>Conclusions and Relevance<\/jats:title>In this comparative effectiveness study of children with SMA1, gene therapy was associated with lower incidence of UCR and fewer supportive care needs vs nusinersen. These exploratory findings warrant confirmation in larger studies.<\/jats:p><\/jats:sec>","DOI":"10.1001\/jamanetworkopen.2025.36348","type":"journal-article","created":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T15:00:34Z","timestamp":1759935634000},"page":"e2536348","source":"Crossref","is-referenced-by-count":5,"title":["Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1"],"prefix":"10.1001","volume":"8","author":[{"given":"Juliette","family":"Ropars","sequence":"first","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Pediatric Department, CHU Brest, Brest, France"},{"name":"Laboratoire de Traitement de l\u2019Information M\u00e9dicale (LaTIM) INSERM UMR 1101, Brest, France"},{"name":"Unit\u00e9 de Recherche Clinique Assistance Publique\u2013H\u00f4pitaux de Paris, Universit\u00e9 Paris-Saclay, Direction de la Recherche Clinique Assistance Publique H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Cances","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Pediatric Clinical Research Unit\/Pediatric Multi-Thematic Module CIC 1436, Neuropediatric Department, Toulouse University Hospital, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocio","family":"Garcia-Uzquiano","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Recherche Clinique Assistance Publique\u2013H\u00f4pitaux de Paris, Universit\u00e9 Paris-Saclay, Direction de la Recherche Clinique Assistance Publique H\u00f4pitaux de Paris, Paris, France"},{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, H\u00f4pital Raymond Poincar\u00e9, Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Gomez-Garcia de la Banda","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, H\u00f4pital Raymond Poincar\u00e9, Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Barnerias","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, H\u00f4pital Necker Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Audic","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Pediatric Department, CHU Brest, Brest, France"},{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, H\u00f4pital de la Timone, Assistance Publique\u2013H\u00f4pitaux de Marseille, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Durigneux","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, Angers University Hospital, Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Halbert","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, H\u00f4pital de la Timone, Assistance Publique\u2013H\u00f4pitaux de Marseille, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionelle","family":"Nkam","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Recherche Clinique Assistance Publique\u2013H\u00f4pitaux de Paris, Universit\u00e9 Paris-Saclay, Direction de la Recherche Clinique Assistance Publique H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Laugel","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, Strasbourg University Hospital, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Espil","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, Bordeaux University Hospital, Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Walther-Louvier","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, Montpellier University Hospital, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Baptiste","family":"Davion","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Department of Neurology, Lille University Hospital, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Isapof","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, H\u00f4pital Trousseau, Assistance Publique\u2013H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Le Goff","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Department of Pediatric Physical Medicine and Rehabilitation, H\u00f4pital M\u00e8re Enfant, Lyon University Hospital, Bron, France"},{"name":"Neuromyogen Institute, Universit\u00e9 de Lyon, Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, H\u00f4pital Necker Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Quijano-Roy","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Neuropediatric Department, H\u00f4pital Raymond Poincar\u00e9, Garches, France"},{"name":"Laboratoire END-ICAP-UMR 1179 (INSERM\/UVSQ), Handicap Neuromusculaire: Physiopathologie, Bioth\u00e9rapie et Pharmacologie Appliqu\u00e9es, Montigny-le-Bretonneau, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lamiae","family":"Grimaldi","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Recherche Clinique Assistance Publique\u2013H\u00f4pitaux de Paris, Universit\u00e9 Paris-Saclay, Direction de la Recherche Clinique Assistance Publique H\u00f4pitaux de Paris, Paris, France"},{"name":"Team Anti-Infective Evasion and Pharmacoepidemiology, INSERM UMR1018, Faculty of Medicine Simone Veil, University Versailles Saint-Quentin-en-Yvelines-Paris Saclay U, Montigny-Le-Bretonneux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"French SMA Registry Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Djillali","family":"Annane","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Attarian","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Bach","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9mi","family":"Bellance","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Berquin","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Beze-Beyrie","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois Constant","family":"Boyer","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Chabrol","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mondher","family":"Chouchane","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariane","family":"Choumert","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Cintas","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"De La Cruz","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumaran","family":"Deiva","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Dieterich","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Duclos","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andoni","family":"Echaniz-Laguna","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narcisse","family":"Elenga","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Espil-Taris","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Flabeau","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Fradin","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Froget","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karima","family":"Ghorab","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00eblle","family":"Gousse","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Guichard","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Guyant-Marechal","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Jacquin-Piques","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Laure","family":"Kaminsky","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Laforet","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9mentine","family":"Lambert","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Lazaro","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Mercier","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe Edouard","family":"Merle","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maud","family":"Michaud","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Nadaj-Pakleza","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvain","family":"Nollet","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Nouges","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Baptiste","family":"NOURY","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Pereon","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Pervill\u00e9","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Richelme","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Sabouraud","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Sacconi","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Sarrazin","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Sarret","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Schweitzer","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilhem","family":"Sole","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Spinazzi","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Thibaud","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Trommsdorf","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon Andoni","family":"Urtizberea","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Vanhulle","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Vuillerot","sequence":"additional","affiliation":[{"name":"for the French SMA Registry Study Group"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","published-online":{"date-parts":[[2025,10,8]]},"reference":[{"issue":"3","key":"zoi251008r1","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1002\/ana.24864","article-title":"Emerging therapies and challenges in spinal muscular atrophy.","volume":"81","author":"Farrar","year":"2017","journal-title":"Ann Neurol"},{"issue":"1","key":"zoi251008r2","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene.","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"issue":"3","key":"zoi251008r3","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","article-title":"Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"18","key":"zoi251008r4","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy.","volume":"377","author":"Finkel","year":"2017","journal-title":"N Engl J Med"},{"issue":"4","key":"zoi251008r5","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1016\/S1474-4422(21)00001-6","article-title":"Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.","volume":"20","author":"Day","year":"2021","journal-title":"Lancet Neurol"},{"issue":"18","key":"zoi251008r6","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy.","volume":"377","author":"Mendell","year":"2017","journal-title":"N Engl J Med"},{"issue":"10","key":"zoi251008r7","doi-asserted-by":"publisher","first-page":"832","DOI":"10.1016\/S1474-4422(21)00251-9","article-title":"Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial.","volume":"20","author":"Mercuri","year":"2021","journal-title":"Lancet Neurol"},{"issue":"7","key":"zoi251008r8","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1001\/jamaneurol.2021.1272","article-title":"Five-year extension results of the phase 1 START trial of onasemnogene abeparvovec in spinal muscular atrophy.","volume":"78","author":"Mendell","year":"2021","journal-title":"JAMA Neurol"},{"key":"zoi251008r9","doi-asserted-by":"publisher","DOI":"10.1016\/j.lanepe.2024.101092","article-title":"Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.","volume":"47","author":"Wei\u00df","year":"2024","journal-title":"Lancet Reg Health Eur"},{"issue":"1","key":"zoi251008r10","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/S2352-4642(21)00287-X","article-title":"Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.","volume":"6","author":"Wei\u00df","year":"2022","journal-title":"Lancet Child Adolesc Health"},{"issue":"2","key":"zoi251008r11","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1093\/brain\/awac252","article-title":"Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.","volume":"146","author":"Pechmann","year":"2023","journal-title":"Brain"},{"key":"zoi251008r12","doi-asserted-by":"publisher","DOI":"10.1016\/j.lanepe.2023.100817","article-title":"Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.","volume":"37","author":"Gowda","year":"2023","journal-title":"Lancet Reg Health Eur"},{"issue":"2","key":"zoi251008r13","doi-asserted-by":"publisher","first-page":"425","DOI":"10.3233\/JND-230122","article-title":"Real-world outcomes in patients with spinal muscular atrophy treated with onasemnogene abeparvovec monotherapy: findings from the RESTORE Registry.","volume":"11","author":"Servais","year":"2024","journal-title":"J Neuromuscul Dis"},{"issue":"6","key":"zoi251008r14","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1001\/jamapediatrics.2024.0489","article-title":"Universal newborn screening for spinal muscular atrophy.","volume":"178","author":"Oskoui","year":"2024","journal-title":"JAMA Pediatr"},{"issue":"6","key":"zoi251008r15","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1001\/jamapediatrics.2024.0492","article-title":"Clinical effectiveness of newborn screening for spinal muscular atrophy: a nonrandomized controlled trial.","volume":"178","author":"Schwartz","year":"2024","journal-title":"JAMA Pediatr"},{"issue":"9","key":"zoi251008r16","doi-asserted-by":"publisher","first-page":"946","DOI":"10.1001\/jamapediatrics.2024.1911","article-title":"Newborn screening and birth prevalence for spinal muscular atrophy in the US.","volume":"178","author":"Belter","year":"2024","journal-title":"JAMA Pediatr"},{"issue":"6","key":"zoi251008r17","doi-asserted-by":"publisher","first-page":"2414","DOI":"10.1007\/s12325-024-02845-6","article-title":"Long-term comparative efficacy and safety of risdiplam and nusinersen in children with type 1 spinal muscular atrophy.","volume":"41","author":"Kokaliaris","year":"2024","journal-title":"Adv Ther"},{"key":"zoi251008r18","doi-asserted-by":"publisher","DOI":"10.1177\/22143602251353446","article-title":"REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France.","author":"Grimaldi","journal-title":"J Neuromuscul Dis"},{"issue":"3","key":"zoi251008r19","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/j.nmd.2009.11.014","article-title":"The Children\u2019s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability.","volume":"20","author":"Glanzman","year":"2010","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"zoi251008r20","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1093\/biomet\/70.1.41","article-title":"The central role of the propensity score in observational studies for causal effects.","volume":"70","author":"Rosenbaum","year":"1983","journal-title":"Biometrika"},{"issue":"2","key":"zoi251008r21","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1038\/sj.clpt.6100249","article-title":"Developments in post-marketing comparative effectiveness research.","volume":"82","author":"Schneeweiss","year":"2007","journal-title":"Clin Pharmacol Ther"},{"issue":"1","key":"zoi251008r23","doi-asserted-by":"publisher","first-page":"S37","DOI":"10.1177\/15648265040251S106","article-title":"Assessment of gross motor development in the WHO Multicentre Growth Reference Study.","volume":"25","author":"Wijnhoven","year":"2004","journal-title":"Food Nutr Bull"},{"issue":"9596","key":"zoi251008r24","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1016\/S0140-6736(07)61602-X","article-title":"The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies.","volume":"370","author":"von Elm","year":"2007","journal-title":"Lancet"},{"issue":"2","key":"zoi251008r25","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1080\/00031305.2016.1154108","article-title":"The ASA statement on P values: context, process, and purpose.","volume":"70","author":"Wasserstein","year":"2016","journal-title":"Am Stat"},{"key":"zoi251008r26","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1016\/j.ejpn.2024.06.004","article-title":"An updated systematic review on spinal muscular atrophy patients treated with nusinersen, onasemnogene abeparvovec (at least 24 months), risdiplam (at least 12 months) or combination therapies.","volume":"51","author":"Giess","year":"2024","journal-title":"Eur J Paediatr Neurol"},{"issue":"1","key":"zoi251008r27","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1186\/s13023-024-03041-z","article-title":"Real-world evidence for coverage determination of treatments for rare diseases.","volume":"19","author":"Dayer","year":"2024","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"zoi251008r28","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/j.jval.2011.12.010","article-title":"Prospective observational studies to assess comparative effectiveness: the ISPOR good research practices task force report.","volume":"15","author":"Berger","year":"2012","journal-title":"Value Health"},{"issue":"11","key":"zoi251008r29","doi-asserted-by":"publisher","first-page":"4817","DOI":"10.1172\/JCI124120","article-title":"Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.","volume":"129","author":"Ramos","year":"2019","journal-title":"J Clin Invest"},{"issue":"7","key":"zoi251008r30","doi-asserted-by":"publisher","first-page":"1390","DOI":"10.1038\/s41591-022-01867-3","article-title":"Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the phase III SPR1NT trial.","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat Med"},{"issue":"7","key":"zoi251008r31","doi-asserted-by":"publisher","first-page":"1381","DOI":"10.1038\/s41591-022-01866-4","article-title":"Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the phase III SPR1NT trial.","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat Med"},{"issue":"2","key":"zoi251008r32","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/mus.27853","article-title":"Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.","volume":"68","author":"Crawford","year":"2023","journal-title":"Muscle Nerve"},{"issue":"5","key":"zoi251008r33","doi-asserted-by":"publisher","first-page":"813","DOI":"10.3233\/JND-221667","article-title":"DEVOTE study exploring higher dose of nusinersen in spinal muscular atrophy: study design and part A results.","volume":"10","author":"Finkel","year":"2023","journal-title":"J Neuromuscul Dis"},{"key":"zoi251008r34","article-title":"Abstract 710LBP: exploring higher doses of nusinersen in spinal muscular atrophy: final results from part B of the 3-part DEVOTE study.","volume":"43","author":"Crawford","year":"2024","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"zoi251008r35","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1214\/09-STS313","article-title":"Matching methods for causal inference: a review and a look forward.","volume":"25","author":"Stuart","year":"2010","journal-title":"Stat Sci"},{"issue":"6","key":"zoi251008r36","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1111\/joim.12197","article-title":"Propensity scores for confounder adjustment when assessing the effects of medical interventions using nonexperimental study designs.","volume":"275","author":"St\u00fcrmer","year":"2014","journal-title":"J Intern Med"},{"key":"zoi251008r22","volume-title":"Causal Inference: What If","author":"Hernan","year":"2020"}],"container-title":["JAMA Network Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamanetworkopen\/articlepdf\/2839761\/ropars_2025_oi_251008_1759324734.64672.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T15:00:35Z","timestamp":1759935635000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamanetworkopen\/fullarticle\/2839761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,8]]},"references-count":36,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamanetworkopen.2025.36348","relation":{},"ISSN":["2574-3805"],"issn-type":[{"value":"2574-3805","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,8]]}}}