OBJECTIVES

To examine patient-reported symptom burden for Charcot-Marie-Tooth disease type 1A (CMT1A) in Europe and the US.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.