{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T05:59:09Z","timestamp":1792735149139,"version":"4.5.0"},"reference-count":94,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T00:00:00Z","timestamp":1750809600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000057","name":"NIH National Institute of General Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019256","name":"NIHR Great Ormond Street Hospital Biomedical Research Centre","doi-asserted-by":"publisher","award":["22582"],"award-info":[{"award-number":["22582"]}],"id":[{"id":"10.13039\/501100019256","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"}]},{"DOI":"10.13039\/100014461","name":"NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust\/Institute of Cancer Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014461","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32 GM08181"],"award-info":[{"award-number":["T32 GM08181"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32 AR07592"],"award-info":[{"award-number":["T32 AR07592"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003784","name":"Great Ormond Street Hospital for Children","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003784","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000765","name":"University College London","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000765","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007393","name":"Association Fran\u00e7aise contre les Myopathies","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007393","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005041","name":"Universit\u00e9 Catholique de Louvain","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005041","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006662","name":"National Institute on Handicapped Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006662","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2025,7]]},"DOI":"10.1016\/j.nmd.2025.105422","type":"journal-article","created":{"date-parts":[[2025,6,22]],"date-time":"2025-06-22T10:17:04Z","timestamp":1750587424000},"page":"105422","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["The recent clinical trial of losmapimod for the treatment of facioscapulohumeral muscular dystrophy"],"prefix":"10.1016","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4933-3469","authenticated-orcid":false,"given":"Robert J.","family":"Bloch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Traficante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Mariot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Dumonceaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2025.105422_bib0001","article-title":"Facioscapulohumeral dystrophy: molecular basis and therapeutic opportunities","author":"Arends","year":"2024","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"10.1016\/j.nmd.2025.105422_bib0002","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1212\/CON.0000000000001155","article-title":"Facioscapulohumeral muscular dystrophy","volume":"28","author":"Mul","year":"2022","journal-title":"Continuum"},{"key":"10.1016\/j.nmd.2025.105422_bib0003","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.ncl.2014.04.003","article-title":"Facioscapulohumeral muscular dystrophy","volume":"32","author":"Statland","year":"2014","journal-title":"Neurol Clin"},{"key":"10.1016\/j.nmd.2025.105422_bib0004","doi-asserted-by":"crossref","first-page":"1916","DOI":"10.1212\/CON.0000000000000399","article-title":"Facioscapulohumeral muscular dystrophy","volume":"22","author":"Statland","year":"2016","journal-title":"Continuum"},{"key":"10.1016\/j.nmd.2025.105422_bib0005","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/S0378-1119(99)00267-X","article-title":"Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element","volume":"236","author":"Gabriels","year":"1999","journal-title":"Gene"},{"key":"10.1016\/j.nmd.2025.105422_bib0006","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/ng1262","article-title":"Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy","volume":"35","author":"van Overveld","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0007","doi-asserted-by":"crossref","DOI":"10.1016\/j.molmed.2011.01.001","article-title":"Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence","author":"van der Maarel","year":"2011","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.nmd.2025.105422_bib0008","doi-asserted-by":"crossref","first-page":"R17","DOI":"10.1093\/hmg\/ddv237","article-title":"Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy","volume":"24","author":"Hewitt","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0009","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1038\/ng.3858","article-title":"DUX-family transcription factors regulate zygotic genome activation in placental mammals","volume":"49","author":"De Iaco","year":"2017","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0010","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1038\/ng.3844","article-title":"Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL\/HERVL retrotransposons","volume":"49","author":"Hendrickson","year":"2017","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0011","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1093\/hmg\/ddu486","article-title":"Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2","volume":"24","author":"Lemmers","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0012","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1016\/j.molmed.2021.03.008","article-title":"Control of DUX4 expression in facioscapulohumeral muscular dystrophy and cancer","volume":"27","author":"Karpukhina","year":"2021","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.nmd.2025.105422_bib0013","doi-asserted-by":"crossref","first-page":"18157","DOI":"10.1073\/pnas.0708659104","article-title":"DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1","volume":"104","author":"Dixit","year":"2007","journal-title":"Proc Natl Acad Sci (US)"},{"key":"10.1016\/j.nmd.2025.105422_bib0014","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0026820","article-title":"The FSHD atrophic myotube phenotype is caused by DUX4 expression","volume":"6","author":"Vanderplanck","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.nmd.2025.105422_bib0015","doi-asserted-by":"crossref","first-page":"2414","DOI":"10.1093\/hmg\/ddp180","article-title":"RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy","volume":"18","author":"Snider","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0016","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/ng.2454","article-title":"Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2","volume":"44","author":"Lemmers","year":"2012","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0017","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1016\/j.ajhg.2016.03.013","article-title":"Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy","volume":"98","author":"van den Boogaard","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0018","doi-asserted-by":"crossref","first-page":"e2441","DOI":"10.1212\/WNL.0000000000009617","article-title":"Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy","volume":"94","author":"Hamanaka","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2025.105422_bib0019","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1126\/science.1189044","article-title":"A unifying genetic model for Facioscapulohumeral Muscular dystrophy","volume":"329","author":"Lemmers","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.nmd.2025.105422_bib0020","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1212\/WNL.0b013e3181f96175","article-title":"Clinical features of facioscapulohumeral muscular dystrophy 2","volume":"75","author":"de Greef","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2025.105422_bib0021","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1002\/mus.23949","article-title":"Risk of functional impairment in facioscapulohumeral muscular dystrophy","volume":"49","author":"Statland","year":"2014","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2025.105422_bib0022","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1111\/j.1582-4934.2012.01647.x","article-title":"DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?","volume":"17","author":"Tassin","year":"2012","journal-title":"J Cell Mol Med"},{"key":"10.1016\/j.nmd.2025.105422_bib0023","doi-asserted-by":"crossref","first-page":"5901","DOI":"10.1093\/hmg\/ddv315","article-title":"Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways","volume":"24","author":"Rickard","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0024","doi-asserted-by":"crossref","first-page":"E2886","DOI":"10.3390\/jcm9092886","article-title":"Therapeutic strategies targeting DUX4 in FSHD","volume":"9","author":"Le Gall","year":"2020","journal-title":"J Clin Med"},{"key":"10.1016\/j.nmd.2025.105422_bib0025","first-page":"2","article-title":"Deciphering facioscapulohumeral dystrophy in the clinical trials era: where are we now?","volume":"44","author":"Torri","year":"2025","journal-title":"Acta Myol"},{"key":"10.1016\/j.nmd.2025.105422_bib0026","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1093\/hmg\/ddw015","article-title":"Antisense targeting of 3\u2032 end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach","volume":"25","author":"Marsollier","year":"2016","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0027","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1038\/mt.2016.111","article-title":"Morpholino-mediated knockdown of DUX4 toward facioscapulohumeral muscular dystrophy therapeutics","volume":"24","author":"Chen","year":"2016","journal-title":"Mol Ther"},{"key":"10.1016\/j.nmd.2025.105422_bib0028","doi-asserted-by":"crossref","first-page":"7128","DOI":"10.1038\/s41467-021-27430-1","article-title":"Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy","volume":"12","author":"Saad","year":"2021","journal-title":"Nat Commun"},{"key":"10.1016\/j.nmd.2025.105422_bib0029","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.omtm.2017.12.005","article-title":"Pre-clinical safety and off-target studies to support translation of AAV-mediated RNAi therapy for FSHD","volume":"8","author":"Wallace","year":"2018","journal-title":"Mol Ther Methods Clin Dev"},{"key":"10.1016\/j.nmd.2025.105422_bib0030","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1093\/hmg\/ddab136","article-title":"Systemic antisense therapeutics inhibiting DUX4 expression ameliorates FSHD-like pathology in an FSHD mouse model","volume":"30","author":"Lu-Nguyen","year":"2021","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0031","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1016\/j.omtn.2021.09.010","article-title":"Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy","volume":"26","author":"Bouwman","year":"2021","journal-title":"Mol Ther Nucleic Acids"},{"key":"10.1016\/j.nmd.2025.105422_bib0032","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1016\/j.omtn.2020.10.028","article-title":"A deoxyribonucleic acid decoy trapping DUX4 for the treatment of facioscapulohumeral muscular dystrophy","volume":"22","author":"Mariot","year":"2020","journal-title":"Mol Ther Nucleic Acids"},{"key":"10.1016\/j.nmd.2025.105422_bib0033","doi-asserted-by":"crossref","first-page":"4573","DOI":"10.1096\/fj.201902696","article-title":"DNA aptamers against the DUX4 protein reveal novel therapeutic implications for FSHD","volume":"34","author":"Klingler","year":"2020","journal-title":"FASEB J"},{"key":"10.1016\/j.nmd.2025.105422_bib0034","doi-asserted-by":"crossref","first-page":"5161","DOI":"10.1093\/nar\/gkw141","article-title":"DUX4 recruits p300\/CBP through its C-terminus and induces global H3K27 acetylation changes","volume":"44","author":"Choi","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2025.105422_bib0035","doi-asserted-by":"crossref","first-page":"eaaw7781","DOI":"10.1126\/sciadv.aaw7781","article-title":"A novel P300 inhibitor reverses DUX4-mediated global histone H3 hyperacetylation, target gene expression, and cell death","volume":"5","author":"Bosnakovski","year":"2019","journal-title":"Sci Adv"},{"key":"10.1016\/j.nmd.2025.105422_bib0036","doi-asserted-by":"crossref","first-page":"5144","DOI":"10.1093\/nar\/gkad230","article-title":"WDR5 is required for DUX4 expression and its pathological effects in FSHD muscular dystrophy","volume":"51","author":"Mocciaro","year":"2023","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2025.105422_bib0037","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1177\/1087057116651868","article-title":"Transcriptional inhibitors identified in a 160,000-compound small-molecule DUX4 viability screen","volume":"21","author":"Choi","year":"2016","journal-title":"J Biomol Screen"},{"key":"10.1016\/j.nmd.2025.105422_bib0038","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s13395-017-0134-x","article-title":"BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells","volume":"7","author":"Campbell","year":"2017","journal-title":"Skelet Muscle"},{"key":"10.1016\/j.nmd.2025.105422_bib0039","first-page":"11","article-title":"Apabetalone, a clinical-stage, selective BET inhibitor, opposes DUX4 target gene expression in primary human FSHD muscle cells","author":"Sarsons","year":"2023","journal-title":"Biomedicines"},{"key":"10.1016\/j.nmd.2025.105422_bib0040","doi-asserted-by":"crossref","first-page":"4658","DOI":"10.1111\/bcp.14884","article-title":"Phase 1 clinical trial of losmapimod in Facioscapulohumeral Dystrophy: safety, tolerability, pharmacokinetics, and target engagement","volume":"87","author":"Mellion","year":"2021","journal-title":"Br J Clin Pharmacol"},{"key":"10.1016\/j.nmd.2025.105422_bib0041","doi-asserted-by":"crossref","DOI":"10.1016\/j.jns.2024.123096","article-title":"An open-label pilot study of losmapimod to evaluate the safety, tolerability, and changes in biomarker and clinical outcome assessments in participants with Facioscapulohumeral Muscular dystrophy type 1","volume":"462","author":"Kools","year":"2024","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2025.105422_bib0042","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/S1474-4422(24)00073-5","article-title":"Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial","volume":"23","author":"Tawil","year":"2024","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.nmd.2025.105422_bib0043","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.4161\/cc.6.11.4315","article-title":"Genetic deficiency of p38\u03b1 reveals its critical role in myoblast cell cycle exit: the p38\u03b1-JNK connection","volume":"6","author":"Perdiguero","year":"2007","journal-title":"Cell Cycle"},{"key":"10.1016\/j.nmd.2025.105422_bib0044","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1038\/ng2033","article-title":"p38\u03b1 suppresses normal and cancer cell proliferation by antagonizing the JNK\u2013c-Jun pathway","volume":"39","author":"Hui","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0045","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1091\/mbc.e03-08-0585","article-title":"p38 MAPK-induced nuclear factor-\u03bab activity is required for skeletal muscle differentiation: role of interleukin-6","volume":"15","author":"Baeza-Raja","year":"2004","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.nmd.2025.105422_bib0046","doi-asserted-by":"crossref","first-page":"5193","DOI":"10.1074\/jbc.274.8.5193","article-title":"p38 Mitogen-activated protein kinase pathway promotes skeletal muscle differentiation","volume":"274","author":"Zetser","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2025.105422_bib0047","doi-asserted-by":"crossref","first-page":"3951","DOI":"10.1128\/MCB.20.11.3951-3964.2000","article-title":"p38 and extracellular signal-regulated kinases regulate the myogenic program at multiple steps","volume":"20","author":"Wu","year":"2000","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.nmd.2025.105422_bib0048","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1083\/jcb.200408066","article-title":"The p38\u03b1\/\u03b2 MAPK functions as a molecular switch to activate the quiescent satellite cell","volume":"169","author":"Jones","year":"2005","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2025.105422_bib0049","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.149915","article-title":"p38 MAPKs \u2014 roles in skeletal muscle physiology, disease mechanisms, and as potential therapeutic targets","volume":"6","author":"Brennan","year":"2021","journal-title":"JCI Insight"},{"key":"10.1016\/j.nmd.2025.105422_bib0050","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.049516","article-title":"DUX4 expression activates JNK and p38 MAP kinases in myoblasts","volume":"15","author":"Brennan","year":"2022","journal-title":"Dis Model Mech"},{"key":"10.1016\/j.nmd.2025.105422_bib0051","doi-asserted-by":"crossref","first-page":"2429","DOI":"10.4161\/cc.6.20.4774","article-title":"p38\u03b1: a suppressor of cell proliferation and tumorigenesis","volume":"6","author":"Hui","year":"2007","journal-title":"Cell Cycle"},{"key":"10.1016\/j.nmd.2025.105422_bib0052","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1038\/sj.emboj.7600528","article-title":"E47 phosphorylation by p38 MAPK promotes MyoD\/E47 association and muscle-specific gene transcription","volume":"24","author":"Llu\u00eds","year":"2005","journal-title":"EMBO J"},{"key":"10.1016\/j.nmd.2025.105422_bib0053","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.bbrc.2023.09.048","article-title":"Postnatal skeletal muscle myogenesis governed by signal transduction . Networks: mAPKs and PI3K-Akt control multiple steps","volume":"682","author":"Endo","year":"2023","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.nmd.2025.105422_bib0054","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0194197","article-title":"The p38 mitogen activated protein kinase inhibitor losmapimod in chronic obstructive pulmonary disease patients with systemic inflammation, stratified by fibrinogen: a randomised double-blind placebo-controlled trial","volume":"13","author":"Fisk","year":"2018","journal-title":"PLoS One"},{"key":"10.1016\/j.nmd.2025.105422_bib0055","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1124\/jpet.119.259663","article-title":"Clinically advanced p38 inhibitors suppress DUX4 expression in cellular and animal models of facioscapulohumeral muscular dystrophy","volume":"370","author":"Oliva","year":"2019","journal-title":"J Pharmacol Exp Ther"},{"key":"10.1016\/j.nmd.2025.105422_bib0056","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1124\/jpet.119.264689","article-title":"P38alpha regulates expression of DUX4 in facioscapulohumeral muscular dystrophy","volume":"374","author":"Rojas","year":"2020","journal-title":"J Pharmacol Exp Ther"},{"key":"10.1016\/j.nmd.2025.105422_bib0057","first-page":"S014","article-title":"Reachable workspace to evaluate efficacy of losmapimod in subjects with FSHD in two phase 2 studies","volume":"32","author":"Tawil","year":"2024","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2025.105422_bib0058","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.nmd.2023.04.005","article-title":"268th ENMC workshop - genetic diagnosis, clinical classification, outcome measures, and biomarkers in facioscapulohumeral muscular dystrophy (FSHD): relevance for clinical trials","volume":"33","author":"Montagnese","year":"2023","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2025.105422_bib0059","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.nmd.2022.10.005","article-title":"265th ENMC international workshop: muscle imaging in facioscapulohumeral muscular dystrophy (FSHD): relevance for clinical trials. 22-24 April 2022, Hoofddorp, The Netherlands","volume":"33","author":"Monforte","year":"2023","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2025.105422_bib0060","unstructured":"Government US. 21st Century Cures Act. H.R. 34. 114th Congress. 2023 [cited 2025 30 January]; accessed January 2025]. Available from: gpo.gov\/fdsys\/pkg\/BILLS-114hr34enr\/pdf\/BILLS-114hr34enr.pdf."},{"key":"10.1016\/j.nmd.2025.105422_bib0061","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.cell.2012.03.035","article-title":"A long ncRNA links copy number variation to a polycomb\/trithorax epigenetic switch in FSHD muscular dystrophy","volume":"149","author":"Cabianca","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.nmd.2025.105422_bib0062","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2023.113120","article-title":"MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy","volume":"42","author":"Runfola","year":"2023","journal-title":"Cell Rep"},{"key":"10.1016\/j.nmd.2025.105422_bib0063","doi-asserted-by":"crossref","first-page":"2224","DOI":"10.1093\/hmg\/ddz043","article-title":"PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level","volume":"28","author":"Banerji","year":"2019","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0064","doi-asserted-by":"crossref","first-page":"2152","DOI":"10.1038\/s41467-017-01200-4","article-title":"PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle","volume":"8","author":"Banerji","year":"2017","journal-title":"Nat Commun"},{"key":"10.1016\/j.nmd.2025.105422_bib0065","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0118813","article-title":"Aberrant splicing in transgenes containing introns, exons, and V5 . epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 . Repeat with flanking genomic sequences","volume":"10","author":"Ansseau","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.nmd.2025.105422_bib0066","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2023.112642","article-title":"Compromised nonsense-mediated RNA decay results in truncated RNA-binding protein production upon DUX4 expression","volume":"42","author":"Campbell","year":"2023","journal-title":"Cell Rep"},{"key":"10.1016\/j.nmd.2025.105422_bib0067","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/ana.24446","article-title":"Correlation between low FAT1 expression and early affected muscle in . Facioscapulohumeral muscular dystrophy","volume":"78","author":"Mariot","year":"2015","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2025.105422_bib0068","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/humu.22760","article-title":"Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulo- . humeral dystrophy-like phenotype","volume":"36","author":"Puppo","year":"2015","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2025.105422_bib0069","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003550","article-title":"Deregulation of the protocadherin gene FAT1 alters muscle shapes: implica- . tions for the pathogenesis of facioscapulohumeral dystrophy","volume":"9","author":"Caruso","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0070","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.ajhg.2013.08.004","article-title":"The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1","volume":"93","author":"Sacconi","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0071","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1093\/hmg\/ddad175","article-title":"FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation","volume":"33","author":"Engquist","year":"2023","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0072","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-024-77911-8","article-title":"Temporal variation in p38-mediated regulation of DUX4 in facioscapulohumeral muscular dystrophy","volume":"14","author":"Vangipurapu","year":"2024","journal-title":"Sci Rep"},{"key":"10.1016\/j.nmd.2025.105422_bib0073","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s13395-016-0078-6","article-title":"Neuromuscular electrical stimulation promotes development in mice of mature human muscle from immortalized human myoblasts","volume":"6","author":"Sakellariou","year":"2016","journal-title":"Skelet Muscle"},{"key":"10.1016\/j.nmd.2025.105422_bib0074","doi-asserted-by":"crossref","DOI":"10.1016\/j.expneurol.2019.113011","article-title":"Muscle xenografts reproduce key molecular features of facioscapulohumeral muscular dystrophy","volume":"320","author":"Mueller","year":"2019","journal-title":"Exp Neurol"},{"key":"10.1016\/j.nmd.2025.105422_bib0075","first-page":"11","article-title":"iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling","author":"Guo","year":"2022","journal-title":"Elife"},{"key":"10.1016\/j.nmd.2025.105422_bib0076","article-title":"Optimization of xenografting methods for generating human skeletal muscle in mice","volume":"33","author":"O'Neill","year":"2024","journal-title":"Cell Transplant"},{"key":"10.1016\/j.nmd.2025.105422_bib0077","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/s10974-019-09550-w","article-title":"Skeletal muscle cell transplantation: models and methods","volume":"41","author":"Mueller","year":"2020","journal-title":"J Muscle Res Cell Motil"},{"key":"10.1016\/j.nmd.2025.105422_bib0078","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1038\/s41467-017-00730-1","article-title":"Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model","volume":"8","author":"Bosnakovski","year":"2017","journal-title":"Nat Commun"},{"key":"10.1016\/j.nmd.2025.105422_bib0079","doi-asserted-by":"crossref","first-page":"2465","DOI":"10.1172\/JCI133303","article-title":"Transcriptional and cytopathological hallmarks of FSHD in chronic DUX4-expressing mice","volume":"130","author":"Bosnakovski","year":"2020","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2025.105422_bib0080","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/s13395-020-00227-4","article-title":"Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity","volume":"10","author":"Jones","year":"2020","journal-title":"Skelet Muscle"},{"key":"10.1016\/j.nmd.2025.105422_bib0081","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1038\/mt.2012.68","article-title":"RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy","volume":"20","author":"Wallace","year":"2012","journal-title":"Mol Ther"},{"key":"10.1016\/j.nmd.2025.105422_bib0082","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1038\/s41573-023-00775-6","article-title":"Therapeutic approaches for Duchenne muscular dystrophy","volume":"22","author":"Roberts","year":"2023","journal-title":"Nat Rev Drug Discov"},{"key":"10.1016\/j.nmd.2025.105422_bib0083","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1007\/s13311-023-01423-y","article-title":"Evolving therapeutic options for the treatment of Duchenne muscular dystrophy","volume":"20","author":"D'Ambrosio","year":"2023","journal-title":"Neurother"},{"key":"10.1016\/j.nmd.2025.105422_bib0084","doi-asserted-by":"crossref","DOI":"10.3389\/fphar.2021.735912","article-title":"Lessons learned from discontinued clinical developments in Duchenne muscular dystrophy","volume":"12","author":"Markati","year":"2021","journal-title":"Front Pharmacol"},{"key":"10.1016\/j.nmd.2025.105422_bib0085","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.759994","article-title":"Lessons learned from translational research in neuromuscular diseases: impact on study design, outcome measures and managing expectation","volume":"12","author":"Stimpson","year":"2021","journal-title":"Front Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0086","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/j.nmd.2023.10.003","article-title":"269th ENMC international workshop: 10 years of clinical trials in Duchenne Muscular Dystrophy - what have we learned? 9-11 December 2022, Hoofddorp, The Netherlands","volume":"33","author":"Naarding","year":"2023","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2025.105422_bib0087","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1007\/s00415-020-10144-7","article-title":"A 5-year clinical follow-up study from the Italian national registry for FSHD","volume":"268","author":"Vercelli","year":"2021","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2025.105422_bib0088","doi-asserted-by":"crossref","first-page":"fcad235","DOI":"10.1093\/braincomms\/fcad235","article-title":"Facioscapulohumeral muscular dystrophy\u2019s game of homeodomains: therapy wants a biomarker as a sword wants a whetstone","volume":"5","author":"Kyba","year":"2023","journal-title":"Brain Commun"},{"key":"10.1016\/j.nmd.2025.105422_bib0089","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1093\/hmg\/ddae007","article-title":"Validation of the association between MRI and gene signatures in. Facioscapulohumeral dystrophy muscle: implications for clinical trial design","volume":"33","author":"Wong","year":"2024","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2025.105422_bib0090","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.3233\/JND-221636","article-title":"A targeted approach for evaluating DUX4-regulated proteins as potential serum biomarkers for facioscapulohumeral muscular dystrophy using immunoassay proteomics","volume":"10","author":"Campbell","year":"2023","journal-title":"J Neuromusc Dis"},{"key":"10.1016\/j.nmd.2025.105422_bib0091","doi-asserted-by":"crossref","first-page":"fcad221","DOI":"10.1093\/braincomms\/fcad221","article-title":"The FSHD muscle-blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy","volume":"5","author":"Banerji","year":"2023","journal-title":"Brain Commun"},{"key":"10.1016\/j.nmd.2025.105422_bib0092","doi-asserted-by":"crossref","first-page":"83","DOI":"10.3233\/JND-210711","article-title":"Identification of serum interleukin 6 levels as a disease severity biomarker in facioscapulohumeral muscular dystrophy","volume":"9","author":"Gros","year":"2022","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2025.105422_bib0093","doi-asserted-by":"crossref","first-page":"327","DOI":"10.3233\/JND-230063","article-title":"IL-6 and TNF are potential inflammatory biomarkers in Facioscapulohumeral muscular dystrophy","volume":"11","author":"Greco","year":"2024","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2025.105422_bib0094","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.omtm.2020.06.016","article-title":"Myostatin I is a quantifiable biomarker for monitoring pharmaco-gene therapy in duchenne muscular dystrophy","volume":"18","author":"Mariot","year":"2020","journal-title":"Mol Ther Methods Clin Dev"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662500149X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662500149X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T04:19:04Z","timestamp":1776831544000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S096089662500149X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":94,"alternative-id":["S096089662500149X"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2025.105422","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The recent clinical trial of losmapimod for the treatment of facioscapulohumeral muscular dystrophy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2025.105422","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"105422"}}