{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T03:28:38Z","timestamp":1792985318589,"version":"4.5.0"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T00:00:00Z","timestamp":1730937600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction\/Aims<\/jats:title>\n                    <jats:p>The number of clinical trials in facioscapulohumeral muscular dystrophy (FSHD) is expected to increase in the near future. There is a need for clinical outcome assessments (COAs) that can capture disease progression over the relatively short time span of a clinical trial. In this study, we report the natural progression of FSHD and determine the feasibility of COAs for clinical trials.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Genetically confirmed FSHD patients underwent various COAs at baseline and after 5\u2009years. COAs consisted of the Motor Function Measure (MFM), manual muscle testing using the Medical Research Council score, six\u2010minute walk test, quantitative muscle strength assessment of the quadriceps muscle, clinical severity score, and FSHD evaluation score (FES). Statistical significance and the minimal clinically important difference (MCID) were calculated and power calculations were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>One hundred fifty\u2010four symptomatic FSHD patients were included, with a mean (SD) age of 51.4 (14.6)\u2009years old. All COAs showed a minimal, yet statistically significant progression after 5\u2009years. MCID was reached for the MFM Domain 1, MFM total score, and FES. These three COAs showed the lowest sample size requirements for clinical trials (185, 156, and 201 participants per group, respectively, for a trial duration of 2\u2009years).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>The captured FSHD disease progression rate in 5\u2009years was generally minimal. The COAs in this study are not feasible for clinical trials with a duration of 2\u2009years. Extended trial durations or novel outcome assessments might be necessary to improve trial feasibility in FSHD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.28293","type":"journal-article","created":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T06:20:01Z","timestamp":1730960401000},"page":"55-62","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["A 5\u2010year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials"],"prefix":"10.1002","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6838-9345","authenticated-orcid":false,"given":"Joost","family":"Kools","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0412-0670","authenticated-orcid":false,"given":"Sanne","family":"Vincenten","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baziel G. M.","family":"van Engelen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7381-2817","authenticated-orcid":false,"given":"Nicoline B. M.","family":"Voet","sequence":"additional","affiliation":[{"name":"Klimmendaal, Rehabilitation Center  Arnhem The Netherlands"},{"name":"Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingemar","family":"Merkies","sequence":"additional","affiliation":[{"name":"Department of Neurology Maastricht University Medical Center+  Maastricht The Netherlands"},{"name":"Department of Neurology Cura\u00e7ao Medical Center  Willemstad Cura\u00e7ao"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne G. C.","family":"Horlings","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5837-7295","authenticated-orcid":false,"given":"Nicol C.","family":"Voermans","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Mul","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,11,7]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.07.009"},{"key":"e_1_2_12_3_1","unstructured":"Efficacy and Safety of Losmapimod in Treating Participants With Facioscapulohumeral Muscular Dystrophy (FSHD) (REACH).ClinicalTrials.Gov [Internet]. Bethesda (MD): National Library of medicine (US). 2000 Feb 29 \u2013 Identifier NCT05397470 facioscapulohumeral dystrophy (FSHD) [cited 2024 Feb 21].https:\/\/clinicaltrials.gov\/study\/NCT05397470?cond=FSHD&rank=2"},{"key":"e_1_2_12_4_1","unstructured":"A Study to Evaluate RO7204239 in Participants With Facioscapulohumeral Muscular Dystrophy (MANOEUVRE).ClinicalTrials.Gov [Internet]. Bethesda (MD): National Library of medicine (US). 2000 Feb 29 \u2013 Identifier NCT05548556 facioscapulohumeral dystrophy (FSHD) [cited 2024 Feb 21].https:\/\/clinicaltrials.gov\/study\/NCT05548556?cond=FSHD&page=3&rank=24."},{"key":"#cr-split#-e_1_2_12_5_1.1","unstructured":"Phase 1\/2 Study of AOC 1020 in Adults With Facioscapulohumeral Muscular Dystrophy (FSHD) (FORTITUDE) ClinicalTrials.gov [Internet].Bethesda (MD): National Library of medicine (US). 2000 Feb 29 - Identifier NCT05747924 facioscapulohumeral dystrophy (FSHD)"},{"key":"#cr-split#-e_1_2_12_5_1.2","unstructured":"[cited 2024 Feb 21].https:\/\/clinicaltrials.gov\/study\/NCT05747924?cond=FSHD&page=4&rank=31."},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(24)00073-5"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2024.123096"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.10.005"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.09.003"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0197-2456(89)90005-6"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.4065\/77.4.371"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199906)45:6<751::AID-ANA9>3.0.CO;2-M"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21671"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.03.004"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/MRR.0000000000000444"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.apmr.2018.02.017"},{"key":"e_1_2_12_17_1","doi-asserted-by":"crossref","unstructured":"LattreC RippertP HamrounD SacconiS PoirotI VuillerotC.The motor function measure (MFM) in the facio scapulo humeral dystrophy (FSHD) population: description and responsiveness.2016. e84\u2013e85 p.","DOI":"10.1016\/j.rehab.2016.07.195"},{"key":"e_1_2_12_18_1","volume-title":"Aids to the Examination of the Peripheral Nervous System","author":"MRC","year":"1976"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23905"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0238786"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/nau.20110"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-018-1798-3"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.apmr.2012.05.025"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.1.38"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.28031"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0085416"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcsm.13250"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.01.008"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-023-02459-5"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24287"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14863"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-019-1452-x"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2024.02.036"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-230063"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.28293","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T10:31:52Z","timestamp":1733913112000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.28293"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,7]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1002\/mus.28293"],"URL":"https:\/\/doi.org\/10.1002\/mus.28293","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,7]]},"assertion":[{"value":"2024-03-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}