The European CMT Federation is a voluntary non-profit federation registered in Belgium, formed by European national organizations supporting people affected by Charcot-Marie-Tooth disease, a rare peripheral neuropathy affecting hands and feet.
The Mission of the European CMT Federation:
- Promote communication and collaboration between CMT organizations/charities.
- Work together to fund research projects that are beyond the scope of the individual organizations.
- Work together to advocate for greater CMT research funding from organizations such as the National Institutes of Health in the United States, European Union and the Muscular Dystrophy Associations/charities worldwide.
- Work collaboratively to promote International awareness of CMT.
- Share expertise and best practice for the overall promotion and success of the individual CMT organizations.
- Work towards the availability of an affordable and effective treatment for CMT; and to advocate for reimbursement of such treatments.
- Provide basic protocols and advice for the creation of further CMT organizations where no such organization exists currently.
- Provide basic information on CMT to individuals (in English) where there currently is no other support.
The European CMT Federation was formed after a meeting of a number of representatives of CMT organizations at a CMTR Research Consortium Meeting in Italy in 2016. Representatives of CMT United Kingdom, ACMT-Rete, CMT France, NEMA and Spierziekten Nederland formed the working committee to create statutes and the mission of the organization. These representatives formed the first Board Members of ECMTF.
In the future, we would hope to be able to organize and host Conferences in Europe for organizations and for individuals.
European CMT Federation Board members
Daniel TANESSE
Born in 1941 I am suffering from the rare peripheral neuropathy called Charcot-Marie-Tooth (CMT type 2). I am married with Marina – also affected by the CMT – and have a son. Since I retired from my previous job – commercial manager for an airline – I am dedicating my time to the associations and the people concerned by CMT.
In 1991, I joined the Charcot-Marie-Tooth France association as a Regional Delegate, then as Referent for Congresses (400 participants every year) and now as Vice-President.
I am also one of the founders, and the Honorary President of the European CMT Federation (ECMTF) dedicated to help all European CMT associations, with the aim to support them, and make the CMT patients better represented and more powerful.
Filippo GENOVESE
I’m President of the ECMTF and board member of ACMT-Rete, an Italian PAG of CMT patients and a founder member of the Federation. I have a scientific background and I lend a hand with informatics too.
I am suffering from CMT X, I don’t live the relationship with the disease as a condemnation but as a part of me. It was not easy to metabolize it and it is not easy at certain times when the difficulties related to the disease add up to everything else.
I have lots of hobbies (photography, music, motorcycling) and doing moderate physical activity helps me contain the progression of the disease. I am a positive and optimistic person (maybe too much !!!) and helping others makes me feel good.
Alexander LEYSEN
“Spierziekten Vlaanderen” (Muscular Diseases Flanders – Belgium) was involved in the founding of the European CMT Federation.
Marco VAN DER LINDEN
I am a representative of “Spierziekten Nederland”. (Muscle Diseases Netherlands) “Spierziekten Nederland”is an umbrella organization for several muscle diseases in the Netherlands. Our CMT working group consists of nearly 1000 members. Spierziekten Nederland works for people with muscle disease. Spierziekten Nederland is concerned with improved quality of care, effective scientific research, good information and information, providing this for doctors and professional care providers, too.
I am currently General Secretary of the European CMT Federation and was also involved in its establishment.
I work 40 hours a week at a software company in Eindhoven, where I partially do Customer Service and Research & Development.
Simon BULL
Since February 2019 I have been the Chief Executive of CMT United Kingdom. I’m the Treasurer of the European CMT Federation.
We are working to reach more of the estimated 25,000 sufferers of CMT in the UK.
The ECMTF is joining forces across Europe so we can work together and help all our collective members now and in the future.
Alexandre HOYAU
With a scientific background and with a master’s degree in logistics & IT, I was a project manager in these fields before creating a transport and logistics company which I managed for many years.
Suffering from CMT1E, after years of resilience, I decided to choose a life more in line with my health, by leaving the management of the company in 2022 and committing myself to the associative fight on several levels.
Particularly within CMT-France, of which I am now president, or as national advisor to the Rare Diseases Alliance (France).
And I am delighted to now be involved on a European scale within the ECMTF board of directors.
Ingolf PERNICE
Born in 1950, I became aware of increasing problems in sprint running, jumping, and walking since I was ten years old. But physical exercise remained one of my favorite activities; I loved skiing and climbing in the mountains as well as swimming.
My diagnosis at the age of 21 years was CMT2. I took it as a challenge and have tried to live with it since. Throughout my law and economics studies, and my professional life (EU Commission in Brussels and later Frankfurt and Berlin universities as EU and public international law teacher), I tried to demonstrate that this disease cannot stop me in pursuing my aspirations – and it worked!
After retirement I share my time between writing books on European and global law and doing what I can for helping others affected by CMT to live with it in a convenient positive way. I am committed to using my personal and professional experience to stimulate and support scientific research to develop effective therapies for the disease.
I joined the German association of patients affected by muscular diseases (DGM) and proposed establishing a subgroup within it of members affected by CMT. As the president of this CMT-group and after I had achieved that DGM became an ECMTF member, DGM appointed me to be its delegate to ECMTF. Grateful and happy for having been elected to the board of ECMTF, I am looking forward to promoting its objectives and organizing closer cooperation of all patients’ organizations and researchers at the European and global level: joining our efforts will help defeat the disease.
Our focus on research
One of the core missions of ECMTF is to promote research across the whole of Europe into the causes and potential treatments for all types of CMT. When we can take donations, we will be actively seeking funding on an EU-wide scale to promote, not only direct research, but collaboration between researchers across Europe.
This is a comment received from Professor Mary Reilly from the MRC Centre for Neuromuscular Diseases in London:
“One of the main challenges in developing therapies for CMT is the number of causative genes identified. CMT1A is the commonest form of CMT in the UK accounting for about 60% of patients. CMTX1 due to mutations in the gap junction protein beta-1 gene (GJB1, which encodes for the protein connexion 32) is the second commonest cause accounting for about 10% of cases.
The remaining 90+ genes affect the other 30% of the CMT population and there are more genes yet to be identified. This means that other than the 2 common genes the other forms of CMT are very rare with many affecting just a few families and in some cases just a single family.
The second major challenge in developing treatments for CMT is that fortunately CMT (especially CMT1A) is a very slowly progressive disease that does not usually affect life expectancy. This means that any treatments developed have to be very safe especially as most forms of CMT start in childhood; in developing treatments, we need to remember they are likely to have to be started in children so need to be even safer as treatments would need not to interfere with their normal development.”
