The first international study into how CMT affects patients’ daily lives
CMT stands for Charcot-Marie-Tooth disease, named after the three physicians who first described it in 1886: Jean-Martin Charcot, Pierre Marie in France and Howard Henry Tooth in the UK.
CMT is a group of rare and inherited conditions that damage peripheral nerves and is also known as hereditary motor and sensory neuropathy (HMSN).
People with CMT may have muscle weakness in their feet, ankles, legs and hands; an awkward way of walking (gait); highly arched or very flat feet; and numbness in their feet, arms and hands. CMT symptoms usually first appear between the ages of 5 and 15, although they sometimes don’t appear until well into middle age or later. CMT is a progressive disease caused by an inherited fault in one of the many genes that control peripheral nerve development. This genetic fault results in gradual nerve damage, causing symptoms to slowly worsen, making everyday tasks more difficult.
There has been little research to date into how CMT affects the lives of patients. The French company Pharnext, CMT scientific experts, and international Patient Advocacy Groups (PAGs) have therefore partnered to study the impact of CMT on patients’ daily lives. The result of that partnership is the CMT&Me study, which Pharnext is sponsoring over two years in six countries: the US, UK, Germany, France, Italy and Spain. The aim of the study is to collect real-time data directly from patients, who describe what it is like to live with CMT. The study also aims to find out how treatment can improve patient quality of life and slow CMT progression. Pharnext hopes this information will help researchers develop better treatments for CMT.
The study collects data directly from patients using a digital app, CMT&Me, and supporting materials developed through close collaboration among scientific experts, PAOs in all six countries, and CMT patients. The CMT&Me app was reviewed and approved by an Institutional Review Board and is available in English, German, French, Italian and Spanish.
The CMT&Me app collects real-world data using ‘bring your own device’ (BYOD) technology – participants use their own smartphones to complete questionnaires or surveys at their convenience. The app immediately submits the information patients provide to a central database.
A Scientific Advisory Board oversees the CMT&Me study, and includes clinicians who care for CMT patients, PAO representatives, and experts in patient-reported outcomes (PRO) and data management. Non-commercial researchers and PAOs can apply to the Scientific Advisory Board for access to aggregated data via dashboards. Researchers can then use that data to better understand CMT and improve patient care. All patient data remains anonymous, and researchers who access the CMT&Me study database will not be able to identify patients.
What data are being collected?
The CMT&Me app collects rich demographic and epidemiological data about all stages of disease and treatment, as well as quality of life. The app also allows patients to track symptoms over time. By taking part in the study and answering short surveys, you’ll help us gather invaluable insights into what it is like to live with CMT.
Why digital data collection?
The advantages of electronic data collection are well known. First, collecting data electronically is easier for both participants and administrators than paper data collection. It also results in fewer errors in data collection and data entry and data collected digitally is more complete (less data is missing or gets lost). Unlike paper forms, electronic data can be stored easily and securely, and patients can complete questionnaires when and where they want to.
How do patients benefit from using the CMT&Me app?
Participants benefit from monitoring and tracking how they feel. The app also provides a convenient way for them to share their data with friends, family and healthcare professionals.
We developed the CMT&Me app by collaborating with our partners in CMT research. At workshops with CMT patients, clinicians and PAO representatives, we asked potential app users what features they would find useful. We used this feedback to develop and add features such as a knowledge centre with professionally curated content on CMT and a symptom diary that allows patients to track how they feel at any time of day.
My neurologist is enjoying the app as well. He prints out a report for every appointment and feels it is a useful tool for him to get a broad picture of how I am doing in between appointments.
I wish to congratulate you and the rest of your team for the results you are getting and I wish you the best for the future. Thank you very much for what you are doing.