The European CMT Federation (or ECMTF) is launching its 3rd campaign to raise awareness about the Charcot-Marie-Tooth group of diseases: the most common of rare diseases. It will run in October 2019 in 7 European countries and its aim is to make the general public and health professionals more aware of the pathologies and symptoms. The aim of this campaign is to improve screening and limit errors of diagnosis in order 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 France is estimated at between 30,000 to 50,000 people, which makes CMT the most common of rare diseases!
CMT is a genetic disorder which affects the peripheral nerves linking the spinal cord to the muscles and the sensory organs and which transmit 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 often not readily visible or are underestimated. The number and the severity of the symptoms are also extremely varied from one patient to another. Understanding CMT is also made more difficult for family and friends as well as for health professionals involved in diagnosis.
A communication campaign to get the Charcot-Marie-Tooth disease known and recognised.
The 3rd Charcot-Marie-Tooth Awareness campaign by the European CMT Federation begins on the 1st of October in 7 European countries: United Kingdom, France, Belgium, the Netherlands, Italy, Spain and Germany. There are 6 visuals, 4 for the general public and 2 aimed at health professionals who will back up the awareness campaign around Charcot Marie Tooth diseases. There will be a poster campaign in the Tube in London and the Metro in Paris and digital displays in the Metro of Milan. In each country, there will be a digital campaign aimed at doctors and podiatrists on LinkedIn and in specialised press which will last for about 3 months. Over 2 million display adverts will be printed, aimed at the general public in the 7 countries concerned as a complement to a vast Adwords campaign.
France and Italy will have the support of expert ambassadors: Professor Philippe Denormandie, Orthopedic surgeon at Raymond Poincaré Hospital, Garches and Dr. Giuseppe Piscosquito, Neurologist at IRCSS Fondazione Maugeri, Telese (BN), respectively.
CMT sufferers: expert patients
“We can rely on the patient’s intelligence: sharing and listening better to know how they feel in order to better understand their suffering. It’s up to us to get closer to the patient, to make better decisions together, to help them,
guide them and offer suitable treatments.”
“To influence outcomes and beat the disease, we must keep on asking questions, treat the symptoms and try to understand the causes”
Pr Philippe Denormandie, ambassador for the 3rd European CMT Federation awareness campaign 3e Orthopedic surgeon at Raymond Poincaré Hospital, Garches
Treatment of Peripheral Neuropathies: the beginning of a new Era
“I think peripheral neuropathies are the challenge of the future. I am convinced that my generation will witness a therapeutic revolution, exactly as it happened a few generations ago with antibiotic therapy for infections and, therefore, I have the personal ambition to participate in this revolution.”
Dr. Giuseppe Piscosquito, ambassador for the 3rd European CMT Federation awareness campaign, Neurologist at IRCSS Fondazione Maugeri, Telese (BN)
The European CMT Federation, the Charcot-Marie-Tooth Awareness campaign organizer
This is a consortium of 9 patients’ associations set up in September 2016.
The European CMT Federation represents about 1/3 of people suffering from Charcot-Marie-Tooth disease in Europe, which is about 100,000 patients.
Member of Eurordis
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 a number of genes can be involved. The origin of CMT symptoms is when a peripheral nerve is affected and the speed of nerve impulses is slowed. This may affect the axon which transmits the nerve impulse, or the myelin sheath that is wrapped round 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 developed by the Pharnext laboratory is currently being tested and the phase 3 results show a positive effect for CMT1A, the most widespread form of the disease. This drug has shown significant improvement in patients. Pharnext has filed an application for marketing authorisation (MMA) in the United States and Europe.