Patient-reported disease burden in the Accelerate Clinical Trials in Charcot–Marie–Tooth Disease Study

Abstract

Background and Aims: The Charcot–Marie–Tooth Disease Health Index (CMT-HI) is a disease-specific, patient-reported disease burden measure. As part of an international clinical trial readiness study, individuals with CMT1A (ages 18–75 years) underwent clinical outcome assessments (COAs), including the CMT-HI, to capture their longitudinal perspective on the disease burden. Methods: Two hundred and fifteen participants underwent serial COAs including the CMT-HI, CMT Functional Outcome Measure (CMT-FOM), CMT Neuropathy Score (CMTNSv2R), and CMT Exam Score (CMTES/CMTES-R). Correlations between the total and subscale scores for the CMT-HI and other COAs were determined. Changes in the CMT-HI scores over 12 months were assessed using paired t-tests. The minimum clinically important difference (MCID) for the CMT-HI and its subscales were calculated by anchoring to a participant global impression of change scale. Results: At baseline, CMT1A participants were 44.5 ± 15 years old (range: 18–75) and 58% were women. The mean CMT-HI was 25.7 ± 18.8 (range: 0–91.9; 100 reflecting maximal disease burden). The CMT-HI correlated with the CMT-FOM (r =.54, p