PRO83 PATIENT-REPORTED SYMPTOM BURDEN OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A IN EUROPE AND THE US MEASURED USING A DIGITAL APP

Abstract

To examine patient-reported symptom burden for Charcot-Marie-Tooth disease type 1A (CMT1A) in Europe and the US. Adults with CMT1A were recruited to a two-year international observational study exploring the real-world impact of the disease. Data were collected via CMT&Me, a digital app developed for this study, through which participants were asked questions about quality of life (QoL) via patient-reported outcome measures. This interim analysis examined symptom burden of CMT1A in participants from Germany, Italy, Spain, the UK, and the US. At symptom onset (mean age 17 years), 39% and 10% of participants reported moderate and severe symptoms, respectively. Mean participant age at diagnosis was 26 years, at which participants reported symptoms to be moderate (59%) and severe (25%), with symptoms worsening between the two timepoints in 47% of participants (n=450). The mean number of years since diagnosis was reported to be 19, although there was high variance. The most important CMT symptoms (n=450) were difficulty walking (most important), weakness in feet, weakness in legs, weakness in hands and fingers, and problems with balance (fifth most important). Twenty percent of participants (n=269) experienced cramps daily, while 47% experienced them every 1-4 days. Most participants (55%) rated the cramps they experienced as either severe or moderate. Average PROMIS pain intensity (n=274) and Brief Fatigue Inventory (n=258) scores indicated moderate symptom impact on QoL. The symptom burden of CMT1A is wide-reaching and affects people with the disease according to differing severities in terms of physical limitations, cramps, pain, and fatigue.