Charcot-Marie-Tooth awareness campaign during October Month
The European CMT Federation (or ECMTF) is launching its 5th campaign to raise awareness about the Charcot-Marie-Tooth group of diseases: the most common of rare diseases. It will run in October 2021 in 10 European countries, and it aims to make the general public and health professionals more aware of the pathologies and symptoms. This campaign aims to improve screening and limit diagnosis errors to get the best possible care as early as possible …
A rare disease … yet common
Charcot-Marie-Tooth disease (CMT), named after the three doctors who first described it, is a rare and little-known neuropathy.
The number of sufferers in Europe is estimated to be around 300,000 people, making CMT the most common rare diseases!
CMT is a genetic disorder that affects the peripheral nerves linking the spinal cord to the muscles and the sensory organs, transmitting messages from the brain to the limbs. These signals involve motor abilities, affecting movement, and sensory faculties, affecting the sense of touch or feeling pain. The combination of these messages also helps in maintaining balance.
Charcot-Marie-Tooth disease affects 1 in 1,220 – 2,500 people
A disease which “is unknown and ignored.”
The disease develops slowly and has many repercussions: progressive deformity of the feet and the hands (foot drop, claw toes, wasting muscles in the calves, forearms, and hands), problems with balance, sensitivity issues, tiredness, pains, cramps, etc. and the quality of life for Charcot- Marie-Tooth sufferers deteriorates.
CMT is often spoken of as an “invisible handicap” because the difficulties are usually not readily visible or underestimated. The number and the severity of the symptoms are extremely varied from one patient to another. Understanding CMT is therefore more difficult for family and friends, as well as for health professionals involved in the diagnosis.
A communication campaign to get the Charcot-Marie-Tooth disease known and recognised
The 5th campaign by the European CMT Federation begins on the 1st of October in 10 European countries: the United Kingdom, France, Belgium, the Netherlands, Italy, Spain, Germany, Austria, Romania, and Israel. The powerful campaign’s visual will contribute to the awareness message for Charcot-Marie-Tooth disease. 7 Webinars in 7 languages and 6 patient/doctor videos are created to explain the CMT disease and discuss about the diagnosis and life with CMT. A digital campaign addressed to healthcare professionals is carried out in each country involved, on social medias (Facebook, LinkedIn, Instagram) .
The cmt-awareness.com blog will bring together all the awareness and communication tools.
The European CMT Federation, the campaign organizer
The ECMTF is a consortium of 15 patients’ associations (10 Full Members and 5 Associate Members) set up in August 2018 and represents about 1/3 of people suffering from Charcot- Marie-Tooth disease in Europe, about 100,000 patients. The ECMTF is a member of EURORDIS, EFNA, and TREAT-NMD.
The main objectives for CMT Europe are:
– Making the general public throughout Europe more aware of CMT
– Promoting and supporting collaborative research.
More about CMT :
A family disease, a family of diseases
Charcot-Marie-Tooth disease is hereditary and rarely random. There are several kinds of pathology because several genes can be involved. CMT symptoms originate when a peripheral nerve is affected and the speed of nerve impulses is slowed. The damage may affect both the axon, which transmits the nerve impulse, or the myelin sheath wrapped around it for protection or maybe both at the same time.
No cure, but research is making progress
There is no cure available for CMT. Patients can improve their quality of life by a multi-disciplinary approach: use of devices (orthotics, foot supports, etc.), physiotherapy and self-rehabilitation, adapted physical activity, psychological support, technical help, alternative medicines (acupuncture, sophrology …), etc.
A drug candidate called PXT3003 is developed by Pharnext, a biotech company based in France, to treat CMT1A, the most common form of CMT. PXT3003 is the most advanced therapy in development in an international Phase 3 clinical study called the PREMIER trial (more information can be found here). PXT3003 was previously tested in a Phase 2 and a Phase 3 clinical study which have shown encouraging efficacy data and a good safety profile in patients with mild-to-moderate CMT1A.
It is also important to mention that the company InFlectis BioScience is about to start phase 2 in developing a treatment for CMT.
Several other biotech companies and academic laboratories are also currently working on CMT RNA or gene therapy strategies .