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

T Rehbein; J Purks; N Dilek; S Behrens-Spraggins; J E Sowden; K J Eichinger; J Burns; D Pareyson; S S Scherer; M M Reilly; M E Shy; M P McDermott; C R Heatwole; D N Herrmann; ACT‐CMT Study Group

doi:10.1111/jns.12662

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

Journal article

Peer reviewed

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

T Rehbein, J Purks, N Dilek, S Behrens-Spraggins, J E Sowden, K J Eichinger, J Burns, D Pareyson, S S Scherer, M M Reilly, …

Journal of the peripheral nervous system, Vol.29(4), pp.487-493

12/2024

DOI: 10.1111/jns.12662

PMCID: PMC11631656

PMID: 39390667

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Abstract

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. 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. 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 < .0001), CMTNSv2R (r = .48, p < .0001), and CMTES/CMTES-R (r = .52/r = .54, p < .0001). Disease burden was greater in women than in men (CMT-HI 29.1 ± 19.1 vs. 21.2 ± 17.3, p = .001). Over 12 months, there was a nonsignificant mean increase in CMT-HI of 0.40 ± 10.0 (n = 189, p = .89). The MCID for the CMT-HI total score was 3.8 points (95% CI: 1.7-5.9). Patient-reported disease burden in CMT1A as measured by the CMT-HI is associated with measures of neurologic impairment and physical functioning. Women reported a higher disease burden than men. These data will inform the design of clinical trials in CMT1A.

Quality of Life

Charcot–Marie–tooth disease

MCID

patient‐reported outcomes

clinical trial design

CMT

CMT Health Index

CMT1A

sex differences

CMT HI

Details

Title: Subtitle: Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study
Creators: T Rehbein - University of Rochester
J Purks - University of Rochester
N Dilek - University of Rochester
S Behrens-Spraggins - University of Rochester
J E Sowden - University of Rochester
K J Eichinger - University of Rochester
J Burns - The University of Sydney
D Pareyson - Fondazione IRCCS Istituto Neurologico Carlo Besta
S S Scherer - University of Pennsylvania
M M Reilly - National Hospital for Neurology and Neurosurgery
M E Shy - University of Iowa
M P McDermott - University of Rochester
C R Heatwole - University of Rochester
D N Herrmann - University of Rochester
ACT‐CMT Study Group
Resource Type: Journal article
Publication Details: Journal of the peripheral nervous system, Vol.29(4), pp.487-493
DOI: 10.1111/jns.12662
PMID: 39390667
PMCID: PMC11631656
NLM abbreviation: J Peripher Nerv Syst
ISSN: 1529-8027
eISSN: 1529-8027
Publisher: WILEY
Grant note: #NIH 1U01 NS109403 / NIH HHS
Language: English
Electronic publication date: 10/10/2024
Date published: 12/2024
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
Record Identifier: 9984722937502771

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