{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:31:00Z","timestamp":1790742660138,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,10,6]],"date-time":"2024-10-06T00:00:00Z","timestamp":1728172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>While prompt identification and treatment of infants with spinal muscular atrophy (SMA) can ameliorate outcomes, variability persists. This study assessed management and outcomes of early\u2010treated infants with SMA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed retrospective data at 12 centers on infants with SMA treated at age \u22646\u2009weeks from August 2018 to December 2023.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sixty\u2010six patients, 35 with two <jats:italic>SMN2<\/jats:italic> copies and 31 with \u22653 <jats:italic>SMN2<\/jats:italic> copies, were included. Twenty\u2010five (38%, 22 with two <jats:italic>SMN2<\/jats:italic> copies), had SMA findings before initial treatment which was onasemnogene abeparvovec in 47 (71%) and nusinersen in 19 (29%). Thirty\u2010two received sequential or combination treatments, including 16 adding nusinersen or risdiplam due to SMA findings following onasemnogene abeparvovec. All sat independently. Compared to children with \u22653 <jats:italic>SMN2<\/jats:italic> copies, those with two <jats:italic>SMN2<\/jats:italic> copies were less likely to walk (23\/34 [68%] vs. 31\/31 [100%], <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.001) and less likely to walk on time (9\/34 [26%] vs. 29\/31 [94%], <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.001); one non\u2010ambulatory child was &lt;18\u2009months old and was excluded from this analysis. No patients required permanent ventilation or exclusively enteral nutrition; six required nocturnal non\u2010invasive ventilation and four utilized supplemental enteral nutrition, all with two <jats:italic>SMN2<\/jats:italic> copies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Early treatment of infants with SMA can improve outcomes as indicated by our cohort, all of whom sat independently and are without permanent ventilation. However, our study demonstrates ongoing disability in most children with two <jats:italic>SMN2<\/jats:italic> copies despite early monotherapy and emphasizes the need for additional research, including earlier monotherapy, initial combination therapy, prenatal treatment, and non\u2010<jats:italic>SMN<\/jats:italic> modifying treatments.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.28267","type":"journal-article","created":{"date-parts":[[2024,10,7]],"date-time":"2024-10-07T05:14:11Z","timestamp":1728278051000},"page":"1247-1256","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Outcomes of early\u2010treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study"],"prefix":"10.1002","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3071-1703","authenticated-orcid":false,"given":"Natalie L.","family":"Goedeker","sequence":"first","affiliation":[{"name":"Department of Neurology 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FelkerM LakhotiaA RogersA ZaidmanC.Real world experience of risdiplam in newborns with spinal muscular atrophy (SMA): a multicenter retrospective cohort study. Paper Presented at: World Muscle Society Charleston SC (October 2023)."}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.28267","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T13:22:05Z","timestamp":1733836925000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.28267"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,6]]},"references-count":37,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1002\/mus.28267"],"URL":"https:\/\/doi.org\/10.1002\/mus.28267","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,6]]},"assertion":[{"value":"2024-03-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}