To determine the rate of disease progression in a longitudinal natural history study of children with Charcot-Marie-Tooth disease (CMT).
206 (103 female) participants aged 3-20 years enrolled in the Inherited Neuropathies Consortium were assessed at baseline and 2-years. Demographic, anthropometric, and diagnostic information were collected. Disease progression was assessed with the CMT Pediatric Scale (CMTPedS), a reliable Rasch-built linearly weighted disability scale evaluating fine and gross motor function, strength, sensation, and balance.
On average CMTPedS Total scores progressed at a rate of 2.4±4.9 over 2-years (14% change from baseline, p<0.001). There was no difference between males and females (mean difference 0.5, 95%CI -0.9 to 1.9, p=0.49). The most responsive CMTPedS items were dorsiflexion strength (z-score change: -0.3, 95% CI -0.6 to -0.05, p=0.02), balance (z-score change: -1.0, 95% CI -1.9 to -0.09, p=0.03), and long jump (z-score change: -0.4, 95% CI -0.7 to -0.02, p=0.04). Of the most common genetic subtypes, 111 participants with CMT1A/PMP22 duplication progressed by 1.8±4.2 (12% change from baseline, p<0.001), nine participants with CMT1B/MPZ mutation progressed by 2.2±5.1 (11% change), six participants with CMT2A/MFN2 mutation progressed by 6.2±7.9 (23% change), and seven participants with CMT4C/SH3TC2 mutations progressed by 3.0±4.5 (12% change). Participants with CMT2A progressed faster than CMT1A (mean difference -4.4, 95%CI -8.1 to -0.8, p=0.02). Children with CMT1A progressed consistently through early childhood (3-10 years) and adolescence (11-20 years) (mean difference 1.1, 95%CI -0.6 to 2.7, p=0.19) while CMT2A appeared to progress faster during early childhood than adolescence (mean difference 10.0, 95%CI -2.2 to 22.2, p=0.08).
Using the CMTPedS as an outcome measure of disease severity, children with CMT progress at a significant rate over 2-years. Understanding the rate at which children with CMT deteriorate is essential for adequately powering trials of disease-modifying interventions. This article is protected by copyright. All rights reserved.
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 16 August 2018.
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