{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T20:10:36Z","timestamp":1792440636949,"version":"4.5.0"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T00:00:00Z","timestamp":1719964800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},{"start":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T00:00:00Z","timestamp":1719964800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"funder":[{"DOI":"10.13039\/100014943","name":"Sarepta Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014943","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Adv Ther"],"published-print":{"date-parts":[[2024,8]]},"DOI":"10.1007\/s12325-024-02915-9","type":"journal-article","created":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T02:02:40Z","timestamp":1719972160000},"page":"3278-3298","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Eteplirsen Treatment for Duchenne Muscular Dystrophy: A Qualitative Patient Experience Study"],"prefix":"10.1007","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1102-0651","authenticated-orcid":false,"given":"Joel","family":"Iff","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe","family":"Carmichael","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"McKee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ihor","family":"Sehinovych","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn","family":"McNeill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Tesi-Rocha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Henricson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Kitchen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,3]]},"reference":[{"key":"2915_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-017-0631-3","volume":"12","author":"S Ryder","year":"2017","unstructured":"Ryder S, Leadley R, Armstrong N, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017;12:1\u201321.","journal-title":"Orphanet J Rare Dis"},{"key":"2915_CR2","doi-asserted-by":"publisher","first-page":"e2304","DOI":"10.1212\/WNL.0000000000012910","volume":"97","author":"J Broomfield","year":"2021","unstructured":"Broomfield J, Hill M, Guglieri M, Crowther M, Abrams K. Life expectancy in Duchenne muscular dystrophy: reproduced individual patient data meta-analysis. Neurology. 2021;97:e2304\u201314.","journal-title":"Neurology"},{"key":"2915_CR3","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1097\/PHM.0b013e3181e72207","volume":"89","author":"JR Bach","year":"2010","unstructured":"Bach JR, Martinez D, Saulat B. Duchenne muscular dystrophy: the effect of glucocorticoids on ventilator use and ambulation. Am J Phys Med. 2010;89:620\u20134.","journal-title":"Am J Phys Med"},{"key":"2915_CR4","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/S1474-4422(18)30024-3","volume":"17","author":"DJ Birnkrant","year":"2018","unstructured":"Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17:251\u201367.","journal-title":"Lancet Neurol"},{"key":"2915_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s11136-022-03240-w","volume":"32","author":"PA Powell","year":"2023","unstructured":"Powell PA, Carlton J. A comprehensive qualitative framework for health-related quality of life in Duchenne muscular dystrophy. Qual Life Res. 2023;32:1\u201312.","journal-title":"Qual Life Res"},{"key":"2915_CR6","doi-asserted-by":"crossref","unstructured":"Brown V, Merikle E, Johnston K, Audhya I, Gooch K, Lowes L. A qualitative study to understand the Duchenne muscular dystrophy experience from the caregiver\/patient perspective. Presented at the MDA Clinical & Scientific Conference; March 16\u201318, 2022; Nashville.","DOI":"10.1186\/s41687-023-00669-6"},{"key":"2915_CR7","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12955-021-01813-w","volume":"19","author":"H Staunton","year":"2021","unstructured":"Staunton H, Trennery C, Arbuckle R, et al. Development of a Clinical Global Impression of Change (CGI-C) and a Caregiver Global Impression of Change (CaGI-C) measure for ambulant individuals with Duchenne muscular dystrophy. Health Qual Life Outcomes. 2021;19:1\u201316.","journal-title":"Health Qual Life Outcomes"},{"key":"2915_CR8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s41687-020-00272-z","volume":"5","author":"K Williams","year":"2021","unstructured":"Williams K, Davidson I, Rance M, Buesch K, Acaster S. A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy. J Patient Rep Outcomes. 2021;5:1\u201312.","journal-title":"J Patient Rep Outcomes"},{"key":"2915_CR9","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1186\/s41687-021-00341-x","volume":"5","author":"K Williams","year":"2021","unstructured":"Williams K, Davidson I, Rance M, Boehnke A, Buesch K, Acaster S. Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model. J Patient Rep Outcomes. 2021;5:75.","journal-title":"J Patient Rep Outcomes"},{"key":"2915_CR10","unstructured":"EXONDYS 51 (eteplirsen) injection. Last revised January 2022. Cambridge, MA: Sarepta Therapeutics, Inc."},{"key":"2915_CR11","unstructured":"VYONDYS 53 (golodirsen) injection. Last revised June 2024. Cambridge, MA: Sarepta Therapeutics, Inc."},{"key":"2915_CR12","unstructured":"VILTEPSO (viltolarsen) injection. Last revised March 2021. Paramus, NJ: NS Pharma, Inc."},{"key":"2915_CR13","unstructured":"AMONDYS 45 (casimersen) injection. Last revised March 2023. Cambridge, MA: Sarepta Therapeutics, Inc."},{"key":"2915_CR14","unstructured":"ELEVIDYS (delandistrogene moxeparvovec-rokl) suspension. Last revised October 2023. Cambridge, MA: Sarepta Therapeutics, Inc."},{"key":"2915_CR15","unstructured":"AGAMREE (vamorolone) oral suspension. Coral Gables, FL: Catalyst Pharmaceuticals, Inc."},{"key":"2915_CR16","unstructured":"DUVYZAT (givinostat) oral suspension. Revised March 2024. Madrid: Italfarmaco S.A."},{"key":"2915_CR17","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1002\/humu.20918","volume":"30","author":"A Aartsma-Rus","year":"2009","unstructured":"Aartsma-Rus A, Fokkema I, Verschuuren J, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat. 2009;30:293\u20139.","journal-title":"Hum Mutat"},{"key":"2915_CR18","doi-asserted-by":"publisher","first-page":"47","DOI":"10.3233\/JND-170272","volume":"5","author":"TB Kinane","year":"2018","unstructured":"Kinane TB, Mayer OH, Duda PW, Lowes LP, Moody SL, Mendell JR. Long-term pulmonary function in Duchenne muscular dystrophy: comparison of eteplirsen-treated patients to natural history. J Neuromuscul Dis. 2018;5:47\u201358.","journal-title":"J Neuromuscul Dis"},{"key":"2915_CR19","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1002\/ana.23982","volume":"74","author":"JR Mendell","year":"2013","unstructured":"Mendell JR, Rodino-Klapac LR, Sahenk Z, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol. 2013;74:637\u201347.","journal-title":"Ann Neurol"},{"key":"2915_CR20","doi-asserted-by":"publisher","first-page":"e2146","DOI":"10.1212\/WNL.0000000000005680","volume":"90","author":"JS Charleston","year":"2018","unstructured":"Charleston JS, Schnell FJ, Dworzak J, et al. Eteplirsen treatment for Duchenne muscular dystrophy: exon skipping and dystrophin production. Neurology. 2018;90:e2146\u201354.","journal-title":"Neurology"},{"key":"2915_CR21","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000015858","volume":"98","author":"LN Alfano","year":"2019","unstructured":"Alfano LN, Charleston JS, Connolly AM, et al. Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy. Medicine (Baltimore). 2019;98: e15858.","journal-title":"Medicine (Baltimore)"},{"key":"2915_CR22","doi-asserted-by":"publisher","first-page":"989","DOI":"10.3233\/JND-210643","volume":"8","author":"CM McDonald","year":"2021","unstructured":"McDonald CM, Shieh PB, Abdel-Hamid HZ, et al. Open-label evaluation of eteplirsen in patients with Duchenne muscular dystrophy amenable to exon\u00a051 skipping: PROMOVI trial. J Neuromuscul Dis. 2021;8:989\u20131001.","journal-title":"J Neuromuscul Dis"},{"key":"2915_CR23","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1002\/ana.24555","volume":"79","author":"JR Mendell","year":"2016","unstructured":"Mendell JR, Goemans N, Lowes LP, et al. Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy. Ann Neurol. 2016;79:257\u201371.","journal-title":"Ann Neurol"},{"key":"2915_CR24","doi-asserted-by":"publisher","first-page":"39","DOI":"10.3233\/JND-210665","volume":"9","author":"O Mitelman","year":"2022","unstructured":"Mitelman O, Abdel-Hamid HZ, Byrne BJ, et al. A combined prospective and retrospective comparison of long-term functional outcomes suggests delayed loss of ambulation and pulmonary decline with long-term eteplirsen treatment. J Neuromuscul Dis. 2022;9:39\u201352.","journal-title":"J Neuromuscul Dis"},{"issue":"P5","key":"2915_CR25","first-page":"24","volume":"52","author":"J Iff","year":"2021","unstructured":"Iff J, Bungey G, Paine A, et al. Delay in Duchenne muscular dystrophy progression with eteplirsen: longer time to loss of ambulation versus standard of care. Neuropediatrics. 2021;52(P5):24.","journal-title":"Neuropediatrics"},{"key":"2915_CR26","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1002\/mus.27662","volume":"66","author":"J Iff","year":"2022","unstructured":"Iff J, Gerrits C, Zhong Y, et al. Delays in pulmonary decline in eteplirsen-treated patients with Duchenne muscular dystrophy. Muscle Nerve. 2022;66:262\u20139.","journal-title":"Muscle Nerve"},{"key":"2915_CR27","unstructured":"Ricchetti-Masterson K, Santra S, Hornibrook S, et al., editors. Interim analysis of EVOLVE: a long-term observational study evaluating eteplirsen, golodirsen, or casimersen in routine clinical practice. 27th International Hybrid Annual Congress of the World Muscle Society; 2022; Halifax, Nova Scotia, Canada."},{"key":"2915_CR28","doi-asserted-by":"publisher","DOI":"10.57264\/cer-2023-0086","volume":"12","author":"J Iff","year":"2023","unstructured":"Iff J, Zhong Y, Tuttle E, Gupta D, Paul X, Henricson E. Real-world evidence of eteplirsen treatment effects in patients with Duchenne muscular dystrophy in the USA. J Comp Effect Res. 2023;12:e230086.","journal-title":"J Comp Effect Res"},{"issue":"1","key":"2915_CR29","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1002\/mus.28075","volume":"70","author":"J Iff","year":"2024","unstructured":"Iff J, Done N, Tuttle E, et al. Survival among patients receiving eteplirsen for up to 8\u00a0years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls. Muscle Nerve. 2024;70(1):60\u201370.","journal-title":"Muscle Nerve"},{"key":"2915_CR30","doi-asserted-by":"publisher","first-page":"S711","DOI":"10.1016\/j.jval.2020.08.1855","volume":"23","author":"K Williams","year":"2020","unstructured":"Williams K, Buesch K, Piglowska N, et al. PRO119 Symptoms and impacts of nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model. Value Health. 2020;23:S711.","journal-title":"Value Health"},{"key":"2915_CR31","doi-asserted-by":"publisher","first-page":"S714","DOI":"10.1016\/j.jval.2020.08.1872","volume":"23","author":"K Williams","year":"2020","unstructured":"Williams K, Buesch K, Piglowska N, Acaster S. PRO136 Symptoms and impacts of nonsense mutation Duchenne muscular dystrophy at different stages of ambulation. Value Health. 2020;23:S714.","journal-title":"Value Health"},{"key":"2915_CR32","doi-asserted-by":"publisher","first-page":"S865","DOI":"10.1016\/j.jval.2019.09.2459","volume":"22","author":"PA Powell","year":"2019","unstructured":"Powell PA, Carlton J, Rowen D, Brazier JE, Chandler F, Godfrey J. PRO130 Project HERCULES: Construction of a new preference-based measure of quality of life for Duchenne muscular dystrophy (DMD). Value Health. 2019;22:S865.","journal-title":"Value Health"},{"key":"2915_CR33","doi-asserted-by":"publisher","first-page":"FNL55","DOI":"10.2217\/fnl-2021-0013","volume":"16","author":"K Williams","year":"2022","unstructured":"Williams K, Buesch K, Acaster S. Symptoms and impacts of nonsense mutation Duchenne muscular dystrophy at different stages of ambulation. Future Neurol. 2022;16:FNL55.","journal-title":"Future Neurol"},{"key":"2915_CR34","doi-asserted-by":"publisher","first-page":"1918","DOI":"10.3109\/09638288.2014.883444","volume":"36","author":"RM Bendixen","year":"2014","unstructured":"Bendixen RM, Lott DJ, Senesac C, Mathur S, Vandenborne K. Participation in daily life activities and its relationship to strength and functional measures in boys with Duchenne muscular dystrophy. Disabil Rehabil. 2014;36:1918\u201323.","journal-title":"Disabil Rehabil"},{"key":"2915_CR35","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/s41687-019-0100-y","volume":"3","author":"H Staunton","year":"2019","unstructured":"Staunton H, Willgoss T, Nelsen L, et al. An overview of using qualitative techniques to explore and define estimates of clinically important change on clinical outcome assessments. J Patient-Report Outcomes. 2019;3:16.","journal-title":"J Patient-Report Outcomes"},{"key":"2915_CR36","doi-asserted-by":"publisher","first-page":"1063","DOI":"10.1108\/JOCM-04-2021-0117","volume":"34","author":"B McSweeney","year":"2021","unstructured":"McSweeney B. Fooling ourselves and others: confirmation bias and the trustworthiness of qualitative research\u2013Part 1 (the threats). J Organ Change Manag. 2021;34:1063\u201375.","journal-title":"J Organ Change Manag"}],"container-title":["Advances in Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12325-024-02915-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12325-024-02915-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12325-024-02915-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,22]],"date-time":"2024-07-22T15:12:38Z","timestamp":1721661158000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12325-024-02915-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,3]]},"references-count":36,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["2915"],"URL":"https:\/\/doi.org\/10.1007\/s12325-024-02915-9","relation":{},"ISSN":["0741-238X","1865-8652"],"issn-type":[{"value":"0741-238X","type":"print"},{"value":"1865-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,3]]},"assertion":[{"value":"4 March 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 May 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Joel Iff, Ihor Sehinovych, and Carolyn McNeill are employees of Sarepta Therapeutics, Inc., and may hold stock\/options. Chloe Carmichael, Stephanie McKee, and Helen Kitchen are employees and stockholders of Clarivate, a healthcare research company that provides consultancy to pharmaceutical companies, including Sarepta Therapeutics, Inc. Carolina Tesi-Rocha reports consulting fees (Avexis, Biogen, Sarepta Therapeutics, Inc., Novartis, NS Pharma) and is a site investigator for clinical trials: Avexis, Biogen, Cytokinetics, Genzyme, Pfizer, PTC\u00a0Therapeutics, Roche, Sarepta Therapeutics, Inc., Scholar Rock,\u00a0and Janssen. Erik Henricson has received consulting fees from Sarepta Therapeutics, Inc., Santhera\u00a0Pharmaceuticals, Pfizer, Eprirum\u00a0Bio, Capricor, Catabasis, Mallinkrodt, Bristol-Myers Squibb, PTC Therapeutics, PepGen, and GSK and has received speaker honoraria from Parent Project Muscular Dystrophy, Muscular Dystrophy Association, and ENMC. Francesco Muntoni has received consultant fees and speaker honoraria from Sarepta Therapeutics, Inc. He is a member of the Pfizer SAB and, relevant for DMD, has received consultancies from Dyne Therapeutics, Roche, and PTC Therapeutics.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"This study was performed in line with the principles of the Declaration of Helsinki. The study was reviewed and approved by New England Independent Review Board (NEIRB [now part of WCG-IRB] number 20203393).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}}]}}