RWD on the symptom burden of Charcot-Marie-Tooth disease type 1A: findings of patient-reported digital CMT&Me observational lifestyle study

RWD shows high symptom burden self-reported by Charcot-Marie-Tooth disease type 1A patients in smartphone-based CMT&Me observational lifestyle study

 An analysis of real-world data (RWD) on the symptom burden of Charcot-Marie-Tooth disease type 1A (CMTD1) has been published in the Journal of Clinical Neuromuscular Disease. Patients across Europe and the USA self-reported their disease symptoms and lifestyles in the smartphone-based observational study CMT&Me. The study observed high disease impact in CMT1A patients.

CMT encompasses a spectrum of severely debilitating and progressive inherited peripheral nerve disorders. CMT1A is the most common type of CMT, affecting around 1/5000 people, so about 150,000 people in Europe and the USA, and about 1,500,000 people worldwide. The genetic mutation responsible for CMT1A is duplication of a peripheral myelin protein gene that results in abnormal neuronal sheath formation, consequent abnormal peripheral nerve conduction and axonal loss. Patients suffer progressive arm and leg muscle atrophy, with 5% eventually needing wheelchairs.

The CMT&Me observational study ran in Europe and the USA over 5 years from 2018. 937 patients were enrolled on the study and supplied lifestyle and regular disease impact assessments through the CMT&Me smartphone-based app, including scores for pain and mobility levels, ability to work etc. The study was supported by the biopharmaceutical company Pharnext and managed by Vitaccess in collaboration with patient advocacy groups and key opinion leaders in the field.

Analysis of the RWD gathered into 2021 by CMT&Me shows patient-reported symptom burden is high. Participants reported weakness in the extremities, difficulties using limbs, fatigue and pain. Almost half of study participants experienced a worsening of symptom severity following diagnosis. Patients registered impaired quality of life, and anxiety and depression were each reported by over a third of participants in the study.

These CMT&Me RWD demonstrate the high unmet medical need of the orphan disease CMT1A and highlight the need for comprehensive interprofessional care over the entire disease course. The study forms a baseline against which the value of potential treatments for CMT1A can be assessed, such as Pharnext’s PXT3003 combination approach that has already completed an international Phase III trial with positive topline results.