{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001333194,0.0003672545,0.0005636521,0.0001224158,0.0002435014,0.00009560064,0.0004526576,0.0005414605,0.00001402165],"category_scores_gemma":[0.001446365,0.0002984444,0.0004542516,0.0001981975,0.0007710081,0.00001990142,0.0003610082,0.0007570766,0.000001988876],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002051624,"about_ca_system_score_gemma":0.0002510589,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006807536,"about_ca_topic_score_gemma":0.0005223081,"domain_scores_codex":[0.9958613,0.001115172,0.001275293,0.001103739,0.000268617,0.0003758998],"domain_scores_gemma":[0.9985363,0.0002884948,0.0002418656,0.0006549216,0.0001395372,0.0001388865],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.006585034,0.0003103064,0.8635067,0.00005420387,0.0006608749,0.00000516399,0.0002816476,0.0000640521,0.0001361031,0.00005435384,0.001469749,0.1268718],"study_design_scores_gemma":[0.02061069,0.0005502463,0.9479506,0.00004715446,0.0001547908,0.000003450715,0.002284188,0.0001084473,0.00001695988,0.0001766301,0.02772994,0.0003669213],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9893225,0.00442245,0.0004809344,0.00149419,0.002235503,0.0008099594,0.00006625115,0.00002652824,0.001141648],"genre_scores_gemma":[0.9933133,0.004972011,0.0001453643,0.0008630847,0.0003223626,0.00006845464,0.000228535,0.00003499559,0.00005191496],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1265048,"threshold_uncertainty_score":0.9999468,"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."}}