Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study

Abstract

Background Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy that affects the peripheral nervous system, leading to progressive, predominantly distal muscle weakness, atrophy, sensory loss and progressive limb dysfunction. As with many rare diseases, there is a lack of patient-reported data with which to understand and address patient needs. This study aims to explore the real-world impact of CMT from the patient perspective. Methods This is a prospective, digital lifestyle study of at least 2,000 people with CMT, >18 years, resident in the following countries: France, Germany, Italy, Spain, the UK and the USA. Participants will be recruited using community-based methods, via patient advocacy groups, social media, and word of mouth. Participants will use a smartphone application (CMT&Me) to check eligibility, provide consent, and contribute data. The dataset will include: 1) personal profile on enrolment – demographics, lifestyle characteristics, diagnosis, and current and previous treatments; 2) a selection of validated generic and disease-specific patient-reported outcome instruments: EuroQol 5 Dimensions 5 Levels (EQ-5D-5L), Brief Fatigue Inventory (BFI), Patient-Reported Outcomes Measurement Information System (PROMIS™) Pain Intensity 3a, Pain Interference 6b and Sleep Disturbance 8a, Work Limitations Questionnaire (WLQ), Falls Efficacy Scale – International (FES-I), Lower Extremity Function Scale (LEFS), and Quick Disabilities of Arm, Shoulder & Hand (QuickDASH). Descriptive data analysis will be conducted upon registration of the 1,000th participant and at 12-monthly intervals from study launch. Conclusions This digital, patient-reported study is designed to help researchers and clinicians understand the real-world impact of CMT and the unmet needs of patients.

Patient-Reported Symptom Burden of Charcot–Marie–Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study

“…Methodological limitations of the study have been discussed elsewhere. 28 The study was disproportionately women; this presents a risk of bias, but no information is available for the asymmetric participation and it is in line with literature indicating that women typically engage more with digital health apps than men. 29,30 In the context of symptom burden, one limitation of these results is that they are reliant on patients' self-reported assessment.…”