Development and Cross‐Cultural Validation of a Quality‐of‐Life and Needs Questionnaire for Adult Charcot–Marie–Tooth Patients

ABSTRACT Background and Aims Existing patient‐reported outcome measures (PROMs) for Charcot–Marie‐Tooth disease (CMT) either lack disease specificity or do not assess patients' healthcare needs. We developed the Charcot–Marie‐Tooth Quality of Life and Needs questionnaire (CMT‐QoLN), a brief disease‐specific PROM designed to evaluate both quality of life and unmet healthcare needs in adults with CMT. Methods The CMT‐QoLN comprises four domains: disease symptoms and impact (19 items), work‐related impact (7 items), family and social life (7 items), and disease‐related needs (7 items), with 38 of the items scored on 5‐point Likert scales. It was administered alongside the EQ‐5D‐5L and SF‐36 to CMT patients in Romania and France. Internal consistency, known‐groups validity, correlations with clinical variables, and group‐level convergence with generic instruments were evaluated. Results Internal consistency was good to excellent for most domains (Cronbach's α 0.81–0.95), except for the healthcare‐needs domain in the French cohort ( α = 0.68). The CMT‐QoLN discriminated effectively between patients with different levels of disability, showing large effect sizes for assistance with activities of daily living and walking impairment. Healthcare‐needs scores differed significantly between Romania and France, suggesting sensitivity to differences in healthcare organization. Patterns of impairment were consistent with those obtained using the EQ‐5D‐5L and SF‐36. Interpretation The CMT‐QoLN is a feasible disease‐specific PROM that captures both functional burden and unmet healthcare needs in adults with CMT. By integrating dimensions not addressed by existing instruments, it may complement generic quality‐of‐life measures in routine clinical practice and multinational observational studies. Further validation in larger cohorts is warranted.