{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T01:25:52Z","timestamp":1792113952237,"version":"4.4.0"},"reference-count":43,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T00:00:00Z","timestamp":1715040000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Programa de Apoio ao Desenvolvimento Institucional do Sistema \u00danico de Sa\u00fade"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n<jats:title>Background<\/jats:title>\n<jats:p>Onasemnogene abeparvovec has been approved for the treatment of spinal muscular atrophy 5q type 1 in several countries, which calls for an independent assessment of the evidence regarding efficacy and safety.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec002\">\n<jats:title>Objective<\/jats:title>\n<jats:p>Conduct a meta-analysis to assess the efficacy and safety of onasemnogene abeparvovec in patients diagnosed with SMA type 1, based on the available evidence.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec003\">\n<jats:title>Methods<\/jats:title>\n<jats:p>This article results from searches conducted on databases up to November 2022. Outcomes of interest were global survival and event-free survival, improvement in motor function and treatment-related adverse events. Risk of bias assessment and certainty of evidence were performed for each outcome. Proportional meta-analysis models were performed when applicable.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec004\">\n<jats:title>Results<\/jats:title>\n<jats:p>Four reports of three open-label, non-comparative clinical trials covering 67 patients were included. Meta-analyses of data available in a 12-month follow-up estimate a global survival of 97.56% (95%CI: 92.55 to 99.86, <jats:italic>I<\/jats:italic><jats:sup>2<\/jats:sup> = 0%, n = 67), an event-free survival of 96.5% (95%CI: 90.76 to 99.54, <jats:italic>I<\/jats:italic><jats:sup>2<\/jats:sup> = 32%, n = 66) and a CHOP-INTEND score \u2265 40 points proportion of 87.28% (95%CI: 69.81 to 97.83, <jats:italic>I<\/jats:italic><jats:sup>2<\/jats:sup> = 69%, n = 67). Proportion of 52.64% (95%CI: 27.11 to 77.45, <jats:italic>I<\/jats:italic><jats:sup>2<\/jats:sup> = 78%, n = 67) of treatment-related adverse events was estimated.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec005\">\n<jats:title>Conclusion<\/jats:title>\n<jats:p>The results indicate a potential change in the natural history of type 1 SMA, but the methodological limitations of the studies make the real extent of the technology\u2019s long-term benefits uncertain.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0302860","type":"journal-article","created":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T17:30:46Z","timestamp":1715103046000},"page":"e0302860","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":13,"title":["Efficacy and safety of onasemnogene abeparvovec for the treatment of patients with spinal muscular atrophy type 1: A systematic review with meta-analysis"],"prefix":"10.1371","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0413-8790","authenticated-orcid":true,"given":"Br\u00edgida Dias","family":"Fernandes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e1rbara Corr\u00eaa","family":"Krug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda D\u2019Athayde","family":"Rodrigues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7307-4594","authenticated-orcid":true,"given":"H\u00e9rica N\u00fabia Cardoso","family":"Cirilo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9fani Sousa","family":"Borges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Vanessa D.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4696-0862","authenticated-orcid":true,"given":"Livia Fernandes","family":"Probst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Zimmermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2024,5,7]]},"reference":[{"key":"pone.0302860.ref001","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet].","author":"TW Prior","year":"2000"},{"issue":"5","key":"pone.0302860.ref002","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S1474-4422(12)70061-3","article-title":"Childhood spinal muscular atrophy: controversies and challenges","volume":"11","author":"E Mercuri","year":"2012","journal-title":"Lancet Neurol"},{"issue":"1","key":"pone.0302860.ref003","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy\u2014a literature review.","volume":"12","author":"IEC Verhaert","year":"2017","journal-title":"Orphanet J Rare Dis."},{"key":"pone.0302860.ref004","first-page":"49","article-title":"Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing. npj Genom","volume":"5","author":"SF Kingsmore","year":"2020","journal-title":"Med"},{"issue":"71","key":"pone.0302860.ref005","first-page":"1","article-title":"Spinal muscular atrophy","volume":"6","author":"A D\u2019Amico","year":"2011","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"9","key":"pone.0302860.ref006","doi-asserted-by":"crossref","first-page":"4157","DOI":"10.1007\/s00415-023-11787-y","article-title":"Biomarkers in 5q-associated spinal muscular atrophy-a narrative review","volume":"270","author":"HS Lapp","year":"2023","journal-title":"J Neurol"},{"issue":"18","key":"pone.0302860.ref007","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"ENDEAR Study Group. 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