{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T04:39:50Z","timestamp":1792471190934,"version":"4.5.0"},"reference-count":21,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T00:00:00Z","timestamp":1792368000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T00:00:00Z","timestamp":1792368000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["W.OR18\u201307"],"award-info":[{"award-number":["W.OR18\u201307"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"abstract":"ABSTRACT<\/jats:title>\n \n Introduction\/Aims<\/jats:title>\n Identifying endpoints that are sensitive to change is crucial for clinical trial design in facioscapulohumeral muscular dystrophy (FSHD). This study adds follow\u2010up data to a previously published 5\u2010year natural history study in the same cohort, aiming to correlate short\u2010term disease progression to longer term follow\u2010up.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Adult FSHD patients were reassessed 1.5\u2009years after their 5\u2010year visit. A subgroup underwent trimonthly assessments for 1\u2009year following the 1.5\u2010year visit. Disease severity scores, motor function measure (MFM), 6\u2010min walk test (6MWT), antigravity tests (AGTs), and muscle strength by manual muscle testing (MMT) were assessed to determine change over time. Sample sizes were calculated for a hypothetical trial assuming stabilization of the disease as treatment aim.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Eighty\u2010six patients completed both assessments, 30 of whom underwent trimonthly assessments. Over 1.5\u2009years, a small decline was observed in the mean MMT score (median change: \u22120.2,\n p<\/jats:italic>\n \u2009<\u20090.001), and the 6MWT (median change: \u221214\u2009m,\n p<\/jats:italic>\n \u2009=\u20090.009). In the trimonthly subgroup, individual mean MMT scores were variable between visits. Sample size estimates ranged from 16 (MMT of specific muscles) to 1824 participants (MFM) per group depending on the used clinical outcome measure and patient selection.\n <\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n This study provides clinically relevant data on short\u2010term progression in FSHD. The findings confirm the limited responsiveness of clinical outcome measures resulting in large sample size estimates, demonstrate variability of MMT, and highlight the need for multimodal or biomarker\u2010based endpoints to enable feasible and sensitive clinical trial design.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mus.70413","type":"journal-article","created":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T04:15:23Z","timestamp":1792469723000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["From Long\u2010Term to Trial\u2010Ready: 1.5\u2010Year Follow\u2010Up in an Established\n FSHD<\/scp>\n Cohort Highlights Limitations of Current Outcome Measures"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1023-2182","authenticated-orcid":false,"given":"Sjan","family":"Teeselink","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 C. C.","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"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-6155-9599","authenticated-orcid":false,"given":"Amir Chaman","family":"Baz","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\/0000-0002-5837-7295","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"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7839-8125","authenticated-orcid":false,"given":"Nens","family":"van Alfen","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\/0000-0001-9867-9047","authenticated-orcid":false,"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\/0000-0001-8487-9478","authenticated-orcid":false,"given":"Karlien","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":[[2026,10,19]]},"reference":[{"issue":"2","key":"e_1_2_11_2_1","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.nmd.2015.10.005","article-title":"Clinical Trial Preparedness in Facioscapulohumeral Muscular Dystrophy: Clinical, Tissue, and Imaging Outcome Measures 29\u201030 May 2015, Rochester, New York","volume":"26","author":"Tawil R.","year":"2016","journal-title":"Neuromuscular Disorders"},{"issue":"3","key":"e_1_2_11_3_1","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1002\/mus.28031","article-title":"A Longitudinal Study of Disease Progression in Facioscapulohumeral Muscular Dystrophy (FSHD)","volume":"69","author":"Varma A.","year":"2024","journal-title":"Muscle & Nerve"},{"issue":"1","key":"e_1_2_11_4_1","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1186\/s12891-021-04134-7","article-title":"Longitudinal Study of MRI and Functional Outcome Measures in Facioscapulohumeral Muscular Dystrophy","volume":"22","author":"Wang L. H.","year":"2021","journal-title":"BMC Musculoskeletal Disorders"},{"key":"e_1_2_11_5_1","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/mus.26127","article-title":"Electrical Impedance Myography in Facioscapulohumeral Muscular Dystrophy: A 1\u2010Year Follow\u2010Up Study","volume":"58","author":"Mul K.","year":"2018","journal-title":"Muscle & Nerve"},{"issue":"1","key":"e_1_2_11_6_1","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1212\/WNL.48.1.38","article-title":"A Prospective, Quantitative Study of the Natural History of Facioscapulohumeral Muscular Dystrophy (FSHD): Implications for Therapeutic Trials","volume":"48","author":"The FSH\u2010DY Group","year":"1997","journal-title":"Neurology"},{"issue":"1","key":"e_1_2_11_7_1","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1007\/s00415-020-10144-7","article-title":"A 5\u2010Year Clinical Follow\u2010Up Study From the Italian National Registry for FSHD","volume":"268","author":"Vercelli L.","year":"2021","journal-title":"Journal of Neurology"},{"key":"e_1_2_11_8_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2025.105422","article-title":"The Recent Clinical Trial of Losmapimod for the Treatment of Facioscapulohumeral Muscular Dystrophy","volume":"52","author":"Bloch R. J.","year":"2025","journal-title":"Neuromuscular Disorders"},{"key":"e_1_2_11_9_1","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/mus.28293","article-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","volume":"71","author":"Kools J.","year":"2024","journal-title":"Muscle & Nerve"},{"issue":"6","key":"e_1_2_11_10_1","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1002\/1531-8249(199906)45:6<751::AID-ANA9>3.0.CO;2-M","article-title":"Progress in the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy and Correlation Between the Number of KpnI Repeats at the 4q35 Locus and Clinical Phenotype","volume":"45","author":"Ricci E.","year":"1999","journal-title":"Annals of Neurology"},{"issue":"2","key":"e_1_2_11_11_1","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/mus.21671","article-title":"A Standardized Clinical Evaluation of Patients Affected by Facioscapulohumeral Muscular Dystrophy: The FSHD Clinical Score","volume":"42","author":"Lamperti C.","year":"2010","journal-title":"Muscle & Nerve"},{"issue":"7","key":"e_1_2_11_12_1","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.nmd.2005.03.004","article-title":"A Motor Function Measure for Neuromuscular Diseases. Construction and Validation Study","volume":"15","author":"B\u00e9rard C.","year":"2005","journal-title":"Neuromuscular Disorders"},{"issue":"3","key":"e_1_2_11_13_1","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/mus.25251","article-title":"Validity of the 6 Minute Walk Test in Facioscapulohumeral Muscular Dystrophy","volume":"55","author":"Eichinger K.","year":"2017","journal-title":"Muscle & Nerve"},{"issue":"12","key":"e_1_2_11_14_1","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1016\/j.apmr.2015.08.429","article-title":"Clinical Functional Capacity Testing in Patients With Facioscapulohumeral Muscular Dystrophy: Construct Validity and Interrater Reliability of Antigravity Tests","volume":"96","author":"Rijken N. H.","year":"2015","journal-title":"Archives of Physical Medicine and Rehabilitation"},{"issue":"2","key":"e_1_2_11_15_1","doi-asserted-by":"crossref","first-page":"175","DOI":"10.3758\/BF03193146","article-title":"G*Power 3: A Flexible Statistical Power Analysis Program for the Social, Behavioral, and Biomedical Sciences","volume":"39","author":"Faul F.","year":"2007","journal-title":"Behavior Research Methods"},{"issue":"14","key":"e_1_2_11_16_1","first-page":"e1488","article-title":"Muscle Ultrasound Is a Responsive Biomarker in Facioscapulohumeral Dystrophy","volume":"94","author":"Goselink R. J. M.","year":"2020","journal-title":"Neurology"},{"issue":"3","key":"e_1_2_11_17_1","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1007\/s00415-016-8361-3","article-title":"MRI as Outcome Measure in Facioscapulohumeral Muscular Dystrophy: 1\u2010Year Follow\u2010Up of 45 Patients","volume":"264","author":"Andersen G.","year":"2017","journal-title":"Journal of Neurology"},{"issue":"8","key":"e_1_2_11_18_1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0183825","article-title":"Long\u2010Term Follow\u2010Up of MRI Changes in Thigh Muscles of Patients With Facioscapulohumeral Dystrophy: A Quantitative Study","volume":"12","author":"Fatehi F.","year":"2017","journal-title":"PLoS One"},{"key":"e_1_2_11_19_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2025.105279","article-title":"Strength and Functional Correlates of Reachable Workspace in Facioscapulohumeral Muscular Dystrophy","volume":"48","author":"Wang L. H.","year":"2025","journal-title":"Neuromuscular Disorders"},{"issue":"9","key":"e_1_2_11_20_1","doi-asserted-by":"crossref","DOI":"10.2196\/31775","article-title":"Objective Monitoring of Facioscapulohumeral Dystrophy During Clinical Trials Using a Smartphone App and Wearables: Observational Study","volume":"6","author":"Maleki G.","year":"2022","journal-title":"JMIR Formative Research"},{"key":"e_1_2_11_21_1","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1002\/mus.26088","article-title":"Facioscapulohumeral Muscular Dystrophy Functional Composite Outcome Measure","volume":"58","author":"Eichinger K.","year":"2018","journal-title":"Muscle & Nerve"},{"issue":"4","key":"e_1_2_11_22_1","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.nmd.2013.01.008","article-title":"Reevaluating Measures of Disease Progression in Facioscapulohumeral Muscular Dystrophy","volume":"23","author":"Statland J. M.","year":"2013","journal-title":"Neuromuscular Disorders"}],"container-title":["Muscle & Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.70413","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.70413","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.70413","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T04:15:32Z","timestamp":1792469732000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.70413"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,19]]},"references-count":21,"alternative-id":["10.1002\/mus.70413"],"URL":"https:\/\/doi.org\/10.1002\/mus.70413","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,19]]},"assertion":[{"value":"2025-11-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-15","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"mus.70413"}}