{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T12:35:05Z","timestamp":1781267705507,"version":"3.54.1"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>As promising therapeutic interventions are tested among patients with facioscapulohumeral muscular dystrophy (FSHD), there is a clear need for valid and reliable outcome tools to track disease progression and therapeutic gain in clinical trials and for clinical monitoring. Our aim was to develop and validate the Facioscapulohumeral Muscular Dystrophy\u2010Health Index (FSHD\u2010HI) as a multifaceted patient\u2010reported outcome measure (PRO) designed to measure disease burden in adults with FSHD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Through initial interviews with 20 individuals and a national cross\u2010sectional study with 328 individuals with FSHD, we identified the most prevalent and impactful symptoms in FSHD. The most relevant symptoms were included in the FSHD\u2010HI. We used patient interviews, test\u2013retest reliability evaluation, known groups validity testing, and factor analysis to evaluate and optimize the FSHD\u2010HI.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The FSHD\u2010HI contains 14 subscales that measure FSHD disease burden from the patient's perspective. Fourteen adults with FSHD participated in semistructured beta interviews and found the FSHD\u2010HI to be clear, usable, and relevant to them. Thirty\u2010two adults with FSHD participated in test\u2013retest reliability assessments, which demonstrated the high reliability of the FSHD\u2010HI total score (intraclass correlation coefficient\u2009=\u20090.924). The final FSHD\u2010HI and its subscales also demonstrated a high internal consistency (Cronbach \u03b1\u2009=\u20090.988).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>The FSHD\u2010HI provides researchers and clinicians with a reliable and valid mechanism to measure multifaceted disease burden in patients with FSHD. The FSHD\u2010HI may facilitate quantification of therapeutic effectiveness, as demonstrated by its use as a secondary and exploratory measure in several clinical trials.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27951","type":"journal-article","created":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T11:33:40Z","timestamp":1692790420000},"page":"422-431","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["The Facioscapulohumeral Muscular <scp>Dystrophy\u2010Health<\/scp> Index: Development and evaluation of a <scp>disease\u2010specific<\/scp> outcome measure"],"prefix":"10.1002","volume":"68","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9533-7113","authenticated-orcid":false,"given":"Anika","family":"Varma","sequence":"first","affiliation":[{"name":"Center for Health + Technology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Weinstein","sequence":"additional","affiliation":[{"name":"Center for Health + Technology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamison","family":"Seabury","sequence":"additional","affiliation":[{"name":"Center for Health + Technology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1408-8325","authenticated-orcid":false,"given":"Spencer","family":"Rosero","sequence":"additional","affiliation":[{"name":"Center for Health + Technology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Engebrecht","sequence":"additional","affiliation":[{"name":"Center for Health + Technology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Wagner","sequence":"additional","affiliation":[{"name":"Center for Health + Technology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Zizzi","sequence":"additional","affiliation":[{"name":"Center for Health + Technology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Luebbe","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuran","family":"Dilek","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"McDermott","sequence":"additional","affiliation":[{"name":"Center for Health + Technology University of Rochester  Rochester New York USA"},{"name":"Department of Neurology University of Rochester  Rochester New York USA"},{"name":"Department of Biostatistics and Computational Biology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Kissel","sequence":"additional","affiliation":[{"name":"Department of Neurology The Ohio State University Wexner Medical Center  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Sansone","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences for Health University of Milan  Milan Italy"},{"name":"The NEMO Clinical Center  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad","family":"Heatwole","sequence":"additional","affiliation":[{"name":"Center for Health + Technology University of Rochester  Rochester New York USA"},{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,23]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008123"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells11040687"},{"key":"e_1_2_12_4_1","unstructured":"Facioscapulohumeral Muscular Dystrophy.Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD) [NCT04635891].2021."},{"key":"e_1_2_12_5_1","unstructured":"A phase 3 global randomized.double\u2010blind placebo\u2010controlled 48\u2010week parallel\u2010group study of the efficacy and safety of losmapimod in treating subjects with facioscapulohumeral muscular dystrophy (FSHD) [NCT05397470].2022https:\/\/clinicaltrials.gov\/ct2\/show\/NCT05397470"},{"key":"e_1_2_12_6_1","unstructured":"U.S. Department of Health and Human Services Food and Drug Administration.Guidance for industry: Patient\u2010reported outcome measures: use in medical product development to support labelling claims.2009."},{"key":"e_1_2_12_7_1","unstructured":"U.S. Department of Health and Human Services Food and Drug Administration.Principles for selecting developing modifying and adapting patient\u2010reported outcome instruments for use in medical device evaluation: guidance for industry and Food and Drug Administration staff and other stakeholders.2022."},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14863"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24097"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25282"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27223"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.3233\/JHD\u2010210506"},{"key":"e_1_2_12_13_1","unstructured":"National Registry for Myotonic Dystrophy (DM) & Facioscapulohumeral Dystrophy (FSHD).2022.https:\/\/www.urmc.rochester.edu\/neurology\/national-registry.aspx"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23529"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/oso\/9780198527695.001.0001"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883\u2010019\u20101452\u2010x"},{"key":"e_1_2_12_17_1","unstructured":"Clinical trial readiness to solve barriers to drug development in FSHD.2021[NCT03458832]. 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