{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T09:07:16Z","timestamp":1769850436145,"version":"3.49.0"},"reference-count":47,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T00:00:00Z","timestamp":1597017600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007480","name":"Universidad de Castilla-La Mancha","doi-asserted-by":"publisher","award":["2018\u2010CPUCLM\u20107939"],"award-info":[{"award-number":["2018\u2010CPUCLM\u20107939"]}],"id":[{"id":"10.13039\/501100007480","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To evaluate the effect of pharmacological treatments that increase the synthesis of dystrophin in Duchenne muscular dystrophy (DMD). Systematic searches were carried out in MEDLINE, EMBASE, and Web of Science, and in gray literature from inception to December 2019. Clinical trials addressing the effect of restorative treatments of dystrophin expression in children and adolescents with DMD on functional outcomes {(6\u2010minute walking distance [6MWD], other timed functional tests [TFTs], The North Star Ambulatory Assessment)}, dystrophin expression, cardiorespiratory function, and biochemical tests were included. The DerSimonian\u2010Laird method was used to calculate the pooled estimates for functional outcomes. Eleven studies were included in the systematic review and five in the meta\u2010analysis. Eteplirsen showed a significant effect on 6MWD, \u03946MWD\u00a0=\u00a067.3\u00a0m (95% CI: 27.32, 107.28), and \u03946MWD\u00a0=\u00a0151.0\u00a0m (95% CI: 36.15, 265.85) at 48\u00a0weeks and 3\u00a0years, respectively. In the systematic review, analyzing individually the clinical trials using Ataluren and Drisapersen showed a nonsignificant effect on 6MWD. However, the meta\u2010analysis showed a significant effect on 6MWD for Ataluren and Drisapersen, \u03946MWD\u00a0=\u00a018.3\u00a0m (95% CI: 1.0, 35.5) and \u03946MWD\u00a0=\u00a021.5\u00a0m (95% CI: 4.7, 38.3), respectively. There were no significant differences according to baseline age for Drisapersen. Similarly, the meta\u2010analysis showed effect in TFT with Ataluren. All drugs induced a partial synthesis of dystrophin, and exon skipping was obtained with Eteplirsen and Drisapersen. Eteplirsen also improved forced vital capacity (\u0394%pFVC\u00a0=\u00a01.8%) and maximal inspiratory pressure (\u0394%pMIP\u00a0=\u00a04.4%). Eteplirsen and Ataluren could modestly reduce disease progression. However, more trials are needed to confirm its efficacy, as well as quality of life and cost\u2010utility studies.<\/jats:p>","DOI":"10.1002\/acn3.51149","type":"journal-article","created":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T08:55:26Z","timestamp":1597049726000},"page":"1738-1752","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Restorative treatments of dystrophin expression in Duchenne muscular dystrophy: A systematic review"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1154-8752","authenticated-orcid":false,"given":"Carlos","family":"Pascual\u2010Morena","sequence":"first","affiliation":[{"name":"Health and Social Research Center Universidad de Castilla \u2013 La Mancha Cuenca Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2617-0430","authenticated-orcid":false,"given":"Iv\u00e1n","family":"Cavero\u2010Redondo","sequence":"additional","affiliation":[{"name":"Health and Social Research Center Universidad de Castilla \u2013 La Mancha Cuenca Spain"},{"name":"Universidad Polit\u00e9cnica y Art\u00edstica del Paraguay Asunci\u00f3n Paraguay"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6176-1618","authenticated-orcid":false,"given":"Celia","family":"\u00c1lvarez\u2010Bueno","sequence":"additional","affiliation":[{"name":"Health and Social Research Center Universidad de Castilla \u2013 La Mancha Cuenca Spain"},{"name":"Universidad Polit\u00e9cnica y Art\u00edstica del Paraguay Asunci\u00f3n Paraguay"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0088-8607","authenticated-orcid":false,"given":"Arthur Eumann","family":"Mesas","sequence":"additional","affiliation":[{"name":"Health and Social Research Center Universidad de Castilla \u2013 La Mancha Cuenca Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0527-5498","authenticated-orcid":false,"given":"Diana","family":"Pozuelo\u2010Carrascosa","sequence":"additional","affiliation":[{"name":"Health and Social Research Center Universidad de Castilla \u2013 La Mancha Cuenca Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6121-7893","authenticated-orcid":false,"given":"Vicente","family":"Mart\u00ednez\u2010Vizca\u00edno","sequence":"additional","affiliation":[{"name":"Health and Social Research Center Universidad de Castilla \u2013 La Mancha Cuenca Spain"},{"name":"Facultad de Ciencias de la Salud Universidad Aut\u00f3noma de Chile Talca Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,10]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30024-3"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30025-5"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.03.008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)32160-8"},{"key":"e_1_2_9_6_1","first-page":"CD003725","article-title":"Corticosteroids for the treatment of Duchenne muscular dystrophy","author":"Matthews E","year":"2016","journal-title":"Cochrane Database Syst Rev"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm9010001"},{"key":"e_1_2_9_8_1","first-page":"37","article-title":"Clinical potential of ataluren in the treatment of Duchenne muscular dystrophy","volume":"6","author":"Bertoni C","year":"2016","journal-title":"Degener Neurol Neuromuscul Dis"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-4642(18)30140-8"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.addr.2015.05.008"},{"key":"e_1_2_9_11_1","first-page":"31","volume-title":"An Overview of recent advances and clinical applications of exon skipping and splice modulation for muscular dystrophy and various genetic diseases [Internet]","author":"Rodrigues M","year":"2018"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.11.011"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1089\/nat.2016.0657"},{"key":"e_1_2_9_14_1","unstructured":"FDA.FDA Briefing Document Peripheral and Central Nervous System Drugs Advisory Committee Meeting NDA 200896 Ataluren[Internet].2017. 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