Presentation (CTI)

OBJECTIVES: Facioscapulohumeral Muscular Dystrophy (FSHD) is a neuromuscular disorder (NMD) that leads to progressive muscle loss with patients often experiencing significant variations in severity and progression. Real-world FSHD longitudinal data remains limited, posing a challenge to understanding clinical pathways and assessing outcome measures. This study evaluates EHR activity patterns among FSHD patients in a large US real-world database to better understand availability of comprehensive longitudinal data.
METHODS: Adults (≥18 years) in the Veradigm Network EHR linked to Komodo Health claims database with at least ≥1claim/EHR record with ICD-10-DX for FSHD (G7102) or ≥1 claim/EHR record with SNOMED (399091004) between 1/1/2020 - 9/30/2025. For each patient, the presence of EHR activity before and after the initial diagnosis of FSHD was assessed. For patients with activity in each period, the duration of EHR interaction was calculated using mean, standard deviation (SD) and median years of activity.
RESULTS: Out of 6,753 eligible patients, 6,013 (89%) had documented EHR activity prior to FSHD diagnosis, mean (SD) years of EHR activity pre-diagnosis was 7.24 (3.85). Post-diagnosis, 4,266 patients (63%) had subsequent EHR activity, mean (SD) years was 2.46 (1.67).
CONCLUSIONS: This study underscores the substantial longitudinal variation in healthcare engagement both prior and post FSDH diagnosis. Notably, the extended pre‑diagnosis activity prior to an established diagnosis of FSHD suggests early disease detection is a barrier that impacts care. Our findings highlight the value of longitudinal real-world EHR data for understanding care patterns to further advance FSHD research.