biostudies-literatureRamchandren SNational Center for Advancing Translational SciencesNational Institute of Neurological Disorders and StrokeNINDS/ORDOffice of Research and DevelopmentNINDS NIH HHSNational Institute of Neurological Disorders and Stroke (NINDS)National Center for Advancing Translation Sciences (NCATS) Rare Diseases Clinical Research Network (RDCRN)369-379https://www.ebi.ac.uk/biostudies/studies/S-EPMC11671102biostudies-literatureUnknown89(2)<h4>Objective</h4>Charcot-Marie-Tooth disease (CMT) reduces health-related quality of life (QOL), especially in children. Defining QOL in pediatric CMT can help physicians monitor disease burden clinically and in trials. We identified items pertaining to QOL in children with CMT and conducted validation studies to develop a pediatric CMT-specific QOL outcome measure (pCMT-QOL).<h4>Methods</h4>Development and validation of the pCMT-QOL patient-reported outcome measure were iterative, involving identifying relevant domains, item pool generation, prospective pilot testing and clinical assessments, structured focus-group interviews, and psychometric testing. Testing was conducted in children with CMT seen at participating sites from the USA, United Kingdom, and Australia.<h4>Results</h4>We conAnnals of neurologyDevelopment and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure.PMC11671102U54 NS065712K23‐NS072279U54-NS065712U54NS065712K23-NS072279U54‐NS065712K23 NS072279Burns JChildhood CMT Study GroupShy MEFeely SMEReilly MMEstilow TFinkel RSWu TTSiskind CERamchandren SfalseDevelopment and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure.<h4>Objective</h4>Charcot-Marie-Tooth disease (CMT) reduces health-related quality of life (QOL), especially in children. Defining QOL in pediatric CMT can help physicians monitor disease burden clinically and in trials. We identified items pertaining to QOL in children with CMT and conducted validation studies to develop a pediatric CMT-specific QOL outcome measure (pCMT-QOL).<h4>Methods</h4>Development and validation of the pCMT-QOL patient-reported outcome measure were iterative, involving identifying relevant domains, item pool generation, prospective pilot testing and clinical assessments, structured focus-group interviews, and psychometric testing. Testing was conducted in children with CMT seen at participating sites from the USA, United Kingdom, and Australia.<h4>Results</h4>We con2021-01-01T00:00:00Z2021 Feb2026-06-02T13:18:47.075Z2025-04-19T21:29:38.187ZS-EPMC116711023322224910.1002/ana.25966