{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T21:31:02Z","timestamp":1793827862371,"version":"4.6.1"},"reference-count":88,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T00:00:00Z","timestamp":1705536000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,3,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>We sought to describe patients with SMA treated with onasemnogene abeparvovec monotherapy in the real-world setting.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>RESTORE is a prospective, multicenter, multinational, observational registry that captures data from a variety of sources.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>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\u20136) month and at onasemnogene abeparvovec infusion was 3 (1\u201310) 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\u200a=\u200a81\/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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230122","type":"journal-article","created":{"date-parts":[[2024,1,19]],"date-time":"2024-01-19T11:36:25Z","timestamp":1705664185000},"page":"425-442","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":82,"title":["Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry"],"prefix":"10.1177","volume":"11","author":[{"given":"Laurent","family":"Servais","sequence":"first","affiliation":[{"name":"MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK"},{"name":"Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Li\u00e8ge, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Day","sequence":"additional","affiliation":[{"name":"Department of Neurology, Stanford University Medical Center, Stanford, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl C.","family":"De Vivo","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janbernd","family":"Kirschner","sequence":"additional","affiliation":[{"name":"Department for Neuropediatrics and Muscle Disease, Medical Center \u2013 University of Freiburg, Faculty of Medicine, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK"},{"name":"National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Crystal M.","family":"Proud","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of The King\u2019s Daughters, Norfolk, VA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perry B.","family":"Shieh","sequence":"additional","affiliation":[{"name":"Department of Neurology, David Geffen School of Medicine at UCLA, University of California, Los Angeles, Los Angeles, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo F.","family":"Tizzano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Hospital Vall d\u2019Hebron, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Quijano-Roy","sequence":"additional","affiliation":[{"name":"Garches Neuromuscular Reference Center, Child Neurology and ICU Department, APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[{"name":"H\u00f4pital Necker Enfants Malades, APHP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Tokyo Women\u2019s Medical University, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Faulkner","sequence":"additional","affiliation":[{"name":"Novartis Gene Therapies, Inc., Bannockburn, IL, USA"},{"name":"Institute for Precision and Individualized Therapy, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, IL, USA"},{"name":"Genomics, Biotech and Emerging Medical Technology Institute, National Association of Managed Care Physicians, Richmond, VA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamal M.","family":"Benguerba","sequence":"additional","affiliation":[{"name":"Novartis Gene Therapies Switzerland GmbH, Rotkreuz, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dheeraj","family":"Raju","sequence":"additional","affiliation":[{"name":"Novartis Gene Therapies, Inc., Bannockburn, IL, 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