The purpose of this study was to examine the feasibility, reliability, and convergent validity of a new performance-based measure assessing functional ability in adults with Charcot-Marie-Tooth (CMT), the Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM). Forty-three adults with CMT1A (70% women; mean age 41, SD 14.9 years) participated in this study. The CMT-FOM (mean 25.3 ± 8.7, range 12-44/52) was moderately correlated with the CMT Exam Score (CMTES) (ρ = 0.62; p < 0.0001) and exhibited acceptable reliability (intraclass correlation coefficient = 0.92) and internal consistency (Cronbach α = 0.81). The CMT-FOM discriminated between participants with clinically mild vs moderate-severe CMT1A. Participants with the mildest CMT1A who demonstrated. The authors concluded that the CMT-FOM is well tolerated and showed no floor/ceiling effects in an adult CMT1A cohort matching those likely to enter upcoming clinical trials. However, longitudinal studies further examining the psychometric properties of the CMT-FOM and its responsiveness to change before its application in therapeutic trials are necessary.
