Federation

We are 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.

We will:

  • 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.

Board members

daniel-tenesse

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.

20 years ago 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 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

Filippo GENOVESE

I’m vice-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.


Dany-maes

Dany MAES

As the representative of “Spierziekten Vlaanderen” (Muscular Diseases Flanders – Belgium) I was involved in the founding of the European CMT Federation. I am a board member and my function is treasurer who’s task is , among others, to ensure that our association complies with all legal provisions and there are quite a few.

I am 64, married, have 2 children and 2 grandchildren and I have been retired for 3 years. In my professional life I worked in the service, environment and safety department of a private company. I have CMT type 1A which limits me in my activities but I remain optimistic and my attitude to life is: there are many people who are worse off than myself. It helps me to put things into perspective and to view life more positively.

By being a member of the organization I want to make a modest contribution to finding a solution for making the treatment of CMT possible


Marco van der Linden

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

Simon BULL

Since February 2019 I have been the Chief Executive of CMT United Kingdom.

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.


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.”

Inherited Neuropathy Consortium

General Information

The field of Charcot-Marie-Tooth disease (CMT) research is expanding, and people with the disease can help move it forward.

Discovery of the complicated genetics underlying CMT has made it clear that more studies are needed to correlate the progression, symptoms and outward manifestations of the disease with its specific genetic type.

Researchers say that understanding the differences among the various types of CMT will improve the effectiveness of clinical trials and hasten the development of targeted treatments.

Knowing which mutation a person has also could help doctors better understand the variable nature of the disease, predict its likely course, and provide more specific information about medical management, inheritance patterns (for family planning), and other concerns.

With that aim in mind, a network of centers specializing in the diagnosis and treatment of CMT is being established.  While training the next generation of CMT clinical researchers, the centers will collect and record genetic, biologic and other data from people with the disease.

“The goal is to make this an international network of the leading CMT centers where everybody evaluates patients the same way”, says Professor Mary Reilly, from the MRC Centre for Neuromuscular Diseases in London.

Maintaining the Relationship between Patients and Researchers is Vital!

The Contact Registry has been created to inform patients and/or parents of patients of clinical research studies. Joining the contact registry will help researchers identify and recruit patients who are eligible for participation in future research studies.

Information contained within this registry will be used for recruitment to research studies directed at improving our knowledge and treatment of these rare diseases. The continued efforts of researchers seek to improve the quality of life for all who are suffering from these rare diseases. The work of the researchers cannot occur without the partnership with patients.

Patients who participate in research make it possible for researchers to find new treatments, create new studies, and work for the improvement of all our lives. By joining our registry, you will be contributing to the research of the Rare Diseases Clinical Research Network.

Participation in Research makes it Possible for Researchers to:

  • provide the best possible care to patients affected by rare diseases
  • improve methods in studying your disease
  • achieve deeper understanding of your disease and its causes
  • find new treatments
  • create new studies

The RDCRN Patient Contact Registry is a method by which patients with rare diseases can register themselves with the RDCRN in order to be contacted in the future about clinical research opportunities and updates on the progress of the research projects. The contact registry is anonymous and free of charge.

You (or your child) are invited to participate in a research project that will develop a global registry for patients.

Benefits of Joining the Contact Registry include:

Communication of open recruitment for clinical studies of your disease
Notice of opening of new clinical sites doing research on rare diseases
Information on activities from affiliated awareness and advocacy groups
…and future opportunities to participate in research!

CIR logo

Who Can Join the Contact Registry?

We encourage patients from every country to join the Contact Registry.

How does the Contact Registry Work?

After you have read and agreed to the Authorization, the Registry form will appear on your screen. This form asks you for information such as your (or your child’s) name, address, birth date, place of birth, email address, or items relevant to your (or your child’s) disorders.

Privacy

Once you have entered and submitted this information online, the data will be stored in a secure, computerized database. No personal identifying information (such as your name, address, telephone number) will be given to anyone without your expressed approval.