{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T08:06:45Z","timestamp":1790842005770,"version":"4.1.0"},"reference-count":43,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2021,2,19]],"date-time":"2021-02-19T00:00:00Z","timestamp":1613692800000},"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":[[2021,7,30]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Duchenne muscular dystrophy (DMD) is a rare, X-linked, fatal, degenerative neuromuscular disease caused by DMD gene mutations. A relationship between exon skipping and dystrophin production in exon 51-amenable patients treated with eteplirsen (EXONDYS 51\n                      <jats:sup>\u00ae<\/jats:sup>\n                      ) is established. Once-weekly eteplirsen significantly increased dystrophin, with slower decline in ambulatory function compared to baseline. Long-term treatment with eteplirsen leads to accumulation of dystrophin over time and observed functional benefits in patients with DMD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>Compare long-term ambulatory function in eteplirsen-treated patients versus controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Study 201\/202 included 12 eteplirsen-treated patients assessed twice\/year for ambulatory function over 4 years. Ambulatory evaluations (6-minute walk test [6MWT], loss of ambulation, and North Star Ambulatory Assessment [NSAA]) were compared with matched controls from Italian Telethon and Leuven registries.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>At Years 3 and 4, eteplirsen-treated patients demonstrated markedly greater mean 6MWT than controls (difference in change from baseline of 132 m [95%CI (29, 235), p\u200a=\u200a0.015] at Year 3 and 159\u200am [95%CI (66, 253), p\u200a=\u200a0.002] at Year 4). At Year 4, a significantly greater proportion of eteplirsen-treated patients were still ambulant versus controls (10\/12 vs 3\/11; p\u200a=\u200a0.020). At Year 3, eteplirsen-treated patients demonstrated milder NSAA decline versus controls (difference in change from baseline of 2.6, 95%CI [-6, 11]), however, the difference was not statistically significant; Year 4 control NSAA data were not available.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>In this retrospective matched control study, eteplirsen treatment resulted in attenuation of ambulatory decline over a 4-year observation period, supporting long-term benefit in patients with DMD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-200548","type":"journal-article","created":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T12:21:33Z","timestamp":1611922893000},"page":"469-479","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":52,"title":["Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls"],"prefix":"10.1177","volume":"8","author":[{"given":"Jerry R.","family":"Mendell","sequence":"first","affiliation":[{"name":"Center for Gene Therapy, The Research Institute at Nationwide Children\u2019s Hospital, Columbus, OH, USA"},{"name":"Department of Pediatrics and Neurology, The Ohio State University, Columbus, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Navid","family":"Khan","sequence":"additional","affiliation":[{"name":"Sarepta Therapeutics, Inc., Cambridge, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanshi","family":"Sha","sequence":"additional","affiliation":[{"name":"Sarepta Therapeutics, Inc., Cambridge, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Eliopoulos","sequence":"additional","affiliation":[{"name":"Sarepta Therapeutics, Inc., Cambridge, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig M.","family":"McDonald","sequence":"additional","affiliation":[{"name":"University of California Davis Medical Center, Sacramento, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Goemans","sequence":"additional","affiliation":[{"name":"University Hospitals Leuven, Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Paediatric Neurology, Catholic University, Rome, Italy"},{"name":"Centro Clinico Nemo, Italy"},{"name":"Pediatric Neuropsychiatry, Policlinico Gemelli, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda P.","family":"Lowes","sequence":"additional","affiliation":[{"name":"Center for Gene Therapy, The Research Institute at Nationwide Children\u2019s Hospital, Columbus, OH, USA"},{"name":"Department of Pediatrics and Neurology, The Ohio State University, Columbus, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay N.","family":"Alfano","sequence":"additional","affiliation":[{"name":"Center for Gene Therapy, The Research Institute at Nationwide Children\u2019s Hospital, Columbus, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the Eteplirsen Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,2,19]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1089\/nat.2017.0682"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90039-U"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23810"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23528"},{"issue":"40","key":"ref005","first-page":"1119","volume":"58","author":"Centers for Disease Control and 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