{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T11:55:35Z","timestamp":1783511735073,"version":"3.55.0"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T00:00:00Z","timestamp":1678752000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},{"start":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T00:00:00Z","timestamp":1678752000000},"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":[[2023,5]]},"DOI":"10.1007\/s12325-023-02463-8","type":"journal-article","created":{"date-parts":[[2023,3,26]],"date-time":"2023-03-26T22:59:45Z","timestamp":1679871585000},"page":"2296-2310","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Concept Elicitation Interviews and Conceptual Model to Understand the Patient Experience of Limb Girdle Muscular Dystrophy"],"prefix":"10.1007","volume":"40","author":[{"given":"Kelly","family":"Johnston","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Casstevens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa Perez","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Merikle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie","family":"Presnall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Audhya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,3,14]]},"reference":[{"key":"2463_CR1","unstructured":"World Health Organization. World Health Organization. International Classification of Diseases version 11. 8C70.4 Limb girdle muscular dystrophy [Internet]. 2019. http:\/\/id.who.int\/icd\/entity\/887807212"},{"issue":"4","key":"2463_CR2","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1007\/s10930-021-10006-9","volume":"40","author":"DG Georganopoulou","year":"2021","unstructured":"Georganopoulou DG, Moisiadis VG, Malik FA, Mohajer A, Dashevsky TM, Wuu ST, et al. A journey with LGMD: from protein abnormalities to patient impact. Protein J. 2021;40(4):466\u201388.","journal-title":"Protein J"},{"key":"2463_CR3","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1159\/000369343","volume":"43","author":"A Theadom","year":"2014","unstructured":"Theadom A, Rodrigues M, Roxburgh R, Balalla S, Higgins C, Bhattacharjee R, et al. Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology. 2014;43:259\u201368.","journal-title":"Neuroepidemiology"},{"key":"2463_CR4","doi-asserted-by":"publisher","first-page":"73","DOI":"10.3233\/JND-140045","volume":"2","author":"JCW Deenen","year":"2015","unstructured":"Deenen JCW, Horlings CGC, Verschuuren JJGM, Verbeek ALM, Van Engelen BGM. The epidemiology of neuromuscular disorders: a comprehensive overview of the literature. Journal of Neuromuscular Diseases. 2015;2:73\u201385.","journal-title":"Journal of Neuromuscular Diseases"},{"issue":"11","key":"2463_CR5","doi-asserted-by":"publisher","first-page":"2512","DOI":"10.1038\/s41436-019-0544-8","volume":"21","author":"W Liu","year":"2019","unstructured":"Liu W, Pajusalu S, Lake NJ, Zhou G, Ioannidis N, Mittal P, et al. Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases. Genet Med. 2019;21(11):2512\u201320.","journal-title":"Genet Med"},{"issue":"1","key":"2463_CR6","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1002\/mus.25192","volume":"55","author":"F Magri","year":"2017","unstructured":"Magri F, Nigro V, Angelini C, Mongini T, Mora M, Moroni I, et al. The italian limb girdle muscular dystrophy registry: relative frequency, clinical features, and differential diagnosis. Muscle Nerve. 2017;55(1):55\u201368.","journal-title":"Muscle Nerve"},{"issue":"4","key":"2463_CR7","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1111\/cge.13597","volume":"96","author":"PB Winckler","year":"2019","unstructured":"Winckler PB, da Silva AMS, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, et al. Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. Clin Genet. 2019;96(4):314\u201353.","journal-title":"Clin Genet"},{"issue":"1","key":"2463_CR8","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1186\/s13023-019-1227-x","volume":"14","author":"I Pagola-Lorz","year":"2019","unstructured":"Pagola-Lorz I, Vicente E, Ib\u00e1\u00f1ez B, Torn\u00e9 L, Elizalde-Beiras I, Garcia-Solaesa V, et al. Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region. Orphanet J Rare Dis. 2019;14(1):276.","journal-title":"Orphanet J Rare Dis"},{"key":"2463_CR9","doi-asserted-by":"publisher","first-page":"S7","DOI":"10.3233\/JND-150105","volume":"22","author":"AP Murphy","year":"2015","unstructured":"Murphy AP, Straub V. The classification, natural history and treatment of the limb girdle muscular dystrophies. J Neuromuscul Dis. 2015;22:S7-19.","journal-title":"J Neuromuscul Dis"},{"key":"2463_CR10","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399409001203","volume":"11","author":"D Sandon\u00e0","year":"2009","unstructured":"Sandon\u00e0 D, Betto R. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med. 2009;11: e28.","journal-title":"Expert Rev Mol Med"},{"key":"2463_CR11","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1097\/01.jnen.0000235854.77716.6c","volume":"65","author":"SA Moore","year":"2006","unstructured":"Moore SA, Shilling CJ, Westra S, Wall C, Wicklund MP, Stolle C, et al. Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol. 2006;65:995\u20131003.","journal-title":"J Neuropathol Exp Neurol"},{"issue":"6","key":"2463_CR12","doi-asserted-by":"publisher","first-page":"1599","DOI":"10.1212\/CON.0000000000000809","volume":"25","author":"MP Wicklund","year":"2019","unstructured":"Wicklund MP. The limb-girdle muscular dystrophies. Contin Lifelong Learn Neurol. 2019;25(6):1599\u2013618.","journal-title":"Contin Lifelong Learn Neurol"},{"key":"2463_CR13","doi-asserted-by":"publisher","first-page":"1515","DOI":"10.3892\/mmr.2014.2048","volume":"9","author":"OA Mahmood","year":"2014","unstructured":"Mahmood OA, Jiang XM. Limb-girdle muscular dystrophies: Where next after six decades from the first proposal (Review). Mol Med Rep. 2014;9:1515\u201332.","journal-title":"Mol Med Rep"},{"key":"2463_CR14","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1016\/j.nmd.2018.05.007","volume":"28","author":"V Straub","year":"2018","unstructured":"Straub V, Murphy A, Udd B. 229th ENMC international workshop: Limb girdle muscular dystrophies\u2014nomenclature and reformed classification Naarden, the Netherlands, 17\u201319 March 2017. Neuromuscul Disord. 2018;28:702\u201310.","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"2463_CR15","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1016\/S0960-8966(00)00174-7","volume":"11","author":"L Politano","year":"2001","unstructured":"Politano L, Nigro V, Passamano L, Petretta V, Comi LI, Papparella S, et al. Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromuscul Disord. 2001;11(2):178\u201385.","journal-title":"Neuromuscul Disord"},{"issue":"17","key":"2463_CR16","doi-asserted-by":"publisher","first-page":"1772","DOI":"10.1212\/WNL.0000000000001519","volume":"84","author":"C Semplicini","year":"2015","unstructured":"Semplicini C, Vissing J, Dahlqvist JR, Stojkovic T, Bello L, Witting N, et al. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. Neurology. 2015;84(17):1772\u201381.","journal-title":"Neurology"},{"issue":"16","key":"2463_CR17","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1212\/WNL.0000000000000892","volume":"83","author":"P Narayanaswami","year":"2014","unstructured":"Narayanaswami P, Weiss M, Selcen D, David W, Raynor E, Carter G, et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neur. Neurology. 2014;83(16):1453\u201363.","journal-title":"Neurology"},{"issue":"9","key":"2463_CR18","doi-asserted-by":"publisher","first-page":"2696","DOI":"10.1093\/brain\/awaa228","volume":"143","author":"J Alonso-P\u00e9rez","year":"2020","unstructured":"Alonso-P\u00e9rez J, Gonz\u00e1lez-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, et al. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain. 2020;143(9):2696\u2013708.","journal-title":"Brain"},{"key":"2463_CR19","unstructured":"FDA. Limb Girdle Muscular Dystrophies (LGMD) FDA Patient-led Listening Session [Internet]. 2020 [cited 2022 Jan 7]. https:\/\/img1.wsimg.com\/blobby\/go\/cd065915-4798-409e-aec1-fc8fb5c2266c\/LimbGirdleMuscularDystrophySummary-0002.pdf"},{"key":"2463_CR20","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1007\/s13311-018-0648-x","volume":"15","author":"ML Chu","year":"2018","unstructured":"Chu ML, Moran E. The limb\u2013girdle muscular dystrophies: is treatment on the horizon? Neurotherapeutics. 2018;15:849\u201362.","journal-title":"Neurotherapeutics"},{"issue":"22","key":"2463_CR21","doi-asserted-by":"publisher","first-page":"2083","DOI":"10.3109\/09638288.2014.998782","volume":"37","author":"AC Aho","year":"2015","unstructured":"Aho AC, Hultsj\u00f6 S, Hjelm K. Young adults experiences of living with recessive limb-girdle muscular dystrophy from a salutogenic orientation: an interview study. Disabil Rehabil. 2015;37(22):2083\u201391.","journal-title":"Disabil Rehabil"},{"issue":"6","key":"2463_CR22","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1016\/j.nmd.2017.01.024","volume":"27","author":"AC Aho","year":"2017","unstructured":"Aho AC, Hultsj\u00f6 S, Hjelm K. Experiences of being parents of young adults living with recessive limb-girdle muscular dystrophy from a salutogenic perspective. Neuromuscul Disord. 2017;27(6):585\u201395.","journal-title":"Neuromuscul Disord"},{"issue":"19","key":"2463_CR23","doi-asserted-by":"publisher","first-page":"2289","DOI":"10.1080\/09638288.2018.1464602","volume":"41","author":"AC Aho","year":"2019","unstructured":"Aho AC, Hultsjo S, Hjelm K. Perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support and using a wheelchair: an interview study. Disabil Rehabil. 2019;41(19):2289\u201398.","journal-title":"Disabil Rehabil"},{"key":"2463_CR24","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1002\/mus.26636","volume":"60","author":"M Hunter","year":"2019","unstructured":"Hunter M, Heatwole C, Wicklund M, Weihl CC, Mozaffar T, Statland JM, et al. Limb-girdle muscular dystrophy: a perspective from adult patients on what matters most. Muscle Nerve. 2019;60:419\u201324.","journal-title":"Muscle Nerve"},{"key":"2463_CR25","unstructured":"FDA. PDUFA V: Fiscal Years 2013 - 2017 [Internet]. 2012 [cited 2022 Jun 13]. https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5863890\/"},{"key":"2463_CR26","unstructured":"FDA. Patient-Focused Drug Development: Methods to Identify What Is Important to Patients. Guidance for Industry, Food and Drug Administration Staff, and Other Stakeholders [Internet]. 2022 [cited 2022 Mar 8]. https:\/\/www.fda.gov\/media\/131230\/download"},{"key":"2463_CR27","doi-asserted-by":"crossref","unstructured":"FDA. Discussion Document for Patient-Focused Drug Development Public Workshop on Guidance 3: Select, Develop or Modify Fit-For-Purpose Clinical Outcome Assessments [Internet]. 2018 [cited 2022 Jan 5]. https:\/\/www.fda.gov\/media\/116277\/download","DOI":"10.1007\/s40271-022-00607-6"},{"issue":"Suppl 2","key":"2463_CR28","doi-asserted-by":"publisher","first-page":"S66","DOI":"10.1111\/j.1524-4733.2007.00269.x","volume":"10","author":"ML Rothman","year":"2007","unstructured":"Rothman ML, Beltran P, Cappelleri JC, Lipscomb J, Teschendorf B, Sloan JA. Patient-reported outcomes: conceptual issues. Value Heal. 2007;10(Suppl 2):S66-75.","journal-title":"Value Heal"},{"key":"2463_CR29","unstructured":"World Medical Association. Declaration of Helsinki. Ethical principles for medical research involving human subjects [Internet]. 2018 [cited 2020 Jul 3]. https:\/\/www.wma.net\/policies-post\/wma-declaration-of-helsinki-ethical-principles-for-medical-research-involving-human-subjects\/"},{"issue":"8","key":"2463_CR30","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1016\/j.jval.2011.06.014","volume":"14","author":"DL Patrick","year":"2011","unstructured":"Patrick DL, Burke LB, Gwaltney CJ, Leidy NK, Martin ML, Molsen E, et al. Content validity\u2014establishing and reporting the evidence in newly developed patient-reported outcomes (PRO) instruments for medical product evaluation: ISPOR PRO good research practices task force report: Part 1\u2014eliciting concepts for a new PRO instru. Value Heal. 2011;14(8):967\u201377.","journal-title":"Value Heal"},{"key":"2463_CR31","doi-asserted-by":"crossref","unstructured":"Braun V, Clarke V, Hayfield N, Terry G. Thematic analysis. In: Handbook of Research Methods in Health Social Sciences. 2019. p. 843\u201360.","DOI":"10.1007\/978-981-10-5251-4_103"},{"key":"2463_CR32","unstructured":"Bryant A, Charmaz K. The SAGE Handbook of Grounded Theory. The SAGE Handbook of Grounded Theory. 2012."},{"key":"2463_CR33","unstructured":"NVivo (Version 12). QSR International Pty Ltd [Internet]. 2018 [cited 2023 Feb 1]. https:\/\/www.qsrinternational.com\/nvivo-qualitative-data-analysis-software\/home"},{"issue":"8","key":"2463_CR34","doi-asserted-by":"publisher","first-page":"1075","DOI":"10.1111\/j.1524-4733.2009.00603.x","volume":"12","author":"M Rothman","year":"2009","unstructured":"Rothman M, Burke L, Erickson P, Leidy NK, Patrick DL, Petrie CD. Use of existing patient-reported outcome (PRO) instruments and their modification: The ISPOR good research practices for evaluating and documenting content validity for the use of existing instruments and their modification PRO task force report. Value Heal. 2009;12(8):1075\u201383.","journal-title":"Value Heal"},{"key":"2463_CR35","unstructured":"US Food and Drug Administration. Guidance for Industry Patient-Reported Outcome Measures Use in Medical Product Development to Support Labeling Claims. Clinical\/Medical Federal Register. 2009."},{"key":"2463_CR36","unstructured":"MDA (Muscular Dystrophy Association). Limb-Girdle Muscular Dystrophy (LGMD) [Internet]. [cited 2022 Mar 9]. https:\/\/www.mda.org\/disease\/limb-girdle-muscular-dystrophy\/signs-and-symptoms"},{"issue":"3\u20133","key":"2463_CR37","doi-asserted-by":"publisher","first-page":"S214","DOI":"10.1016\/j.nmd.2012.10.010","volume":"22","author":"C Angelini","year":"2012","unstructured":"Angelini C, Tasca E. Fatigue in muscular dystrophies. Neuromuscul Disord. 2012;22(3\u20133):S214\u201320.","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"2463_CR38","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1007\/s13760-017-0857-9","volume":"118","author":"M Peric","year":"2018","unstructured":"Peric M, Peric S, Stevanovic J, Milovanovic S, Basta I, Nikolic A, et al. Quality of life in adult patients with limb\u2013girdle muscular dystrophies. Acta Neurol Belg. 2018;118(2):243\u201350.","journal-title":"Acta Neurol Belg"},{"key":"2463_CR39","unstructured":"Bushby K. Limb-Girdle Muscular Dystrophies [Internet]. National Organization for Rare Disorders (NORD) Rare Disease Database. 2012 [cited 2022 Mar 9]. https:\/\/rarediseases.org\/rare-diseases\/limb-girdle-muscular-dystrophies"},{"issue":"4","key":"2463_CR40","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0153095","volume":"11","author":"A Fayssoil","year":"2016","unstructured":"Fayssoil A, Ogna A, Chaffaut C, Chevret S, Guimar\u00e3es-Costa R, Leturcq F, et al. Natural history of cardiac and respiratory involvement, prognosis and predictive factors for long-term survival in adult patients with limb girdle muscular dystrophies type 2C and 2D. PLoS ONE. 2016;11(4): e0153095.","journal-title":"PLoS ONE"},{"issue":"5","key":"2463_CR41","doi-asserted-by":"publisher","first-page":"411","DOI":"10.2217\/nmt-2020-0066","volume":"11","author":"E Pozsgai","year":"2021","unstructured":"Pozsgai E, Griffin D, Potter R, Sahenk Z, Lehman K, Rodino-Klapac LR, et al. Unmet needs and evolving treatment for limb girdle muscular dystrophies. Neurodegener Dis Manag. 2021;11(5):411\u201329.","journal-title":"Neurodegener Dis Manag"},{"issue":"7","key":"2463_CR42","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1016\/j.jval.2017.05.015","volume":"20","author":"K Benjamin","year":"2017","unstructured":"Benjamin K, Vernon MK, Patrick DL, Perfetto E, Nestler-Parr S, Burke L. Patient-reported outcome and observer-reported outcome assessment in rare disease clinical trials: An ISPOR COA emerging good practices task force report. Value Heal. 2017;20(7):838\u201355.","journal-title":"Value Heal"}],"container-title":["Advances in Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12325-023-02463-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12325-023-02463-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12325-023-02463-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T19:12:53Z","timestamp":1682449973000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12325-023-02463-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,14]]},"references-count":42,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["2463"],"URL":"https:\/\/doi.org\/10.1007\/s12325-023-02463-8","relation":{},"ISSN":["0741-238X","1865-8652"],"issn-type":[{"value":"0741-238X","type":"print"},{"value":"1865-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,14]]},"assertion":[{"value":"22 November 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 February 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 March 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}