{"id":"W4414697967","doi":"10.1016/j.nmd.2025.106236","title":"279th ENMC international workshop: Classification, clinical care, outcome measures and biomarkers in childhood onset facioscapulohumeral dystrophy: towards standardizing clinical care and ensuring clinical trial readiness. Hoofddorp, The Netherlands, 1-3 November 2024","year":2025,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"SMA Europe; Muskelsvindfonden; Stiftung für die Erforschung der Muskelkrankheiten; European Neuromuscular Centre; Prinses Beatrix Spierfonds; Fondazione Telethon; Deutsche Gesellschaft für Muskelkranke; Amicus Therapeutics; Association Française contre les Myopathies","keywords":"Clinical trial; Facioscapulohumeral muscular dystrophy; MEDLINE; Disease; Clinical research; Patient-reported outcome; Disease management; Clinical study design","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02921215,0.001221913,0.001250684,0.002466534,0.0007838521,0.003119223,0.002201169,0.004407014,0.01941917],"category_scores_gemma":[0.01632743,0.000460798,0.001056131,0.0009836344,0.001120369,0.001849416,0.003044095,0.003734306,0.009615993],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002485247,"about_ca_system_score_gemma":0.00738215,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006635116,"about_ca_topic_score_gemma":0.01835878,"domain_scores_codex":[0.9935144,0.003763071,0.0005366837,0.0004022547,0.001287719,0.0004958585],"domain_scores_gemma":[0.9837844,0.004405968,0.000728507,0.0006544425,0.006697907,0.003728761],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006077092,0.0002259076,0.002400238,0.0004374983,0.00005360022,0.0002061944,0.0001290643,0.0005239815,0.0007671937,0.0009046796,0.7908368,0.2029073],"study_design_scores_gemma":[0.0001579855,0.0003107069,0.01498462,0.003357089,0.00009408489,0.0007974391,0.0003739322,0.001084579,0.001804844,0.003715474,0.9732584,0.00006076768],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.01238428,0.2401223,0.0586898,0.472722,0.1298181,0.001674678,0.009711333,0.001406602,0.07347087],"genre_scores_gemma":[0.07941409,0.1518952,0.1409357,0.08682973,0.120384,0.005961915,0.02592016,0.002336644,0.3863226],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.02921215,"threshold_uncertainty_score":0.1544905,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04042911448266612,"score_gpt":0.3749200837168434,"score_spread":0.3344909692341773,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}