The FSHD functional composite outcome measure


The authors of this study have developed an evaluator-administered functional facioscapulohumeral muscular dystrophy composite outcome measure (FSHD-COM) comprised of patient-identified areas of functional burden for future clinical trials. The FSHD-COM includes functional assessment of the legs, shoulders and arms, trunk, hands, and balance/mobility. In a prospective observational study of 41 FSHD participants, they determined the test-retest reliability and convergent validity as compared to established FSHD disease metrics. The results highlight that the FSHD-COM is a disease-relevant, functional composite outcome measure suitable for future FSHD clinical trials, which shows excellent test-retest reliability and cross sectional associations to disease measures. Future directions include determining multi-site reliability, sensitivity to change, and the minimal clinically important change in the FSHD-COM.

Eichinger K, Heatwole C, Iyadurai S, et al. Facioscapulohumeral muscular dystrophy functional composite outcome measure. Muscle Nerve. 2018 Jan 30. doi: 10.1002/mus.26088. [Epub ahead of print]