Resources

Discussion groups, useful links, frequently asked questions...

Exchange Group

Dialogue with families

Created in 2018, this group allows people with a close relative to a KIF5C gene mutation and people with KIF5C to get in touch, share their experiences and interact with others in the same situation.

Would you like to join the private group ? Click on the Facebook icon !

(a translation tool like Deepl can help you in exchanges)

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To go further

Useful links

Handi Sport 49

The Departmental Handisport Committee of Maine-et-Loire (CDH 49) is thelocal branch of the Fédération Française Handisport. Created in 2005, it currently brings together more than 300 licensees in a dozen clubs and offers about 17 Handisport disciplines, open to people with a motor or sensory disability.

Its main tasks are: develop and organize sports practice persons with disabilities (leisure and competition), training specialized educatorsencourage the creation of new Handisport sections, and foster partnerships with clubs « valid ».

CDH 49 organizes events and competitions, such as boccia tournaments, and days « multisport discovery » to raise awareness of activities suitable for young people and adults. He also runs a Handisport School (in Angers), allowing young people aged 7 to 14 to discover several sports (cracking, boxing, fencing, orientation...).

The committee also plays a role in awareness-raising through initiatives such as the project « P.R.E.T. » to develop football-handicap sections.

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Website : CDHandisport49

National Plan Rare Diseases 2025-2030

Launched by the Government (Ministry of Health) in February 2025, the 4th National Rare Diseases Plan (NRP4) for the period 2025-2030, entitled « From territories to Europe »is the new French roadmap for the management, diagnosis, research and monitoring of people affected by rare diseases.

The plan is structured around 4 axes :

Improving life and care,
Facilitate and accelerate diagnosis,
Promoting access to treatment in rare diseases,
Develop health and autonomy databases and biobanks.

It includes 26 objectives, about 75 actions, and is based on 3 pillars: care, research and industry (industrial innovation).

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Download the document in PDF format : NPNMR4 2025-2030

Solutions to support caregivers

This portal is an institutional entry point which centralises the practical information for carers : he informs them, directs them to existing aids and accompanies them in their daily role.

Caregivers' rights (daily allowance of the caregiver's caregiver, care leave, etc.), support devices, as well as respite solutions via support platforms.

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Official Portal : solidarites.gouv.fr

APF France Handicap

APF France handicap is a French association (recognized public utility) defending the rights of persons with disabilities and their relatives.

Created in 1933, it promotes humanist, militant and social values: equality of rights, citizenship, social participation and free choice of way of life.

APF operates on a daily basis through a wide network: more than 500 structures (delegations, medical-social services, adapted companies) across France.

Its tasks include administrative and legal support, social support, access to employment, combating isolation, and awareness-raising and advocacy against discrimination.

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Website : APF France disability

Platform My Path Handicap

The My Route Handicap platform is an official French portal for information, guidance and services aimed at persons with disabilitiesto their close caregivers and Professionals.

It aims to offer a single entry point to access reliable and up-to-date content on aids, procedures, education, employment, training, health, housing, transport...
The platform was designed with the participation of persons with disabilities, under the aegis of the State (through the Caisse des Dépôts et Consignations and the Caisse nationale de solidarité pour l'autonomy) and guarantees a very high level of accessibility: keyboard navigation, voice synthesis, adapted display, easy to read and understand content.

My Handicap course is a central tool to better guide, find the right interlocutors and carry out disability-related approaches, with ease and with official information.

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Platform website : My Handicap Course

Orphanet

Orphanet is a unique resource, gathering and improving knowledge on rare diseases, in order to facilitate and improve the diagnosis, care and treatment patients with rare diseases.

The objective of Orphanet is to provide high quality information on rare diseases and to provide equal access to knowledge for all stakeholders. Orphanet is also developing the Orphanet nomenclature on rare diseases (ORPHA code), which is essential for improving the visibility of rare diseases in health information and research systems.

Orphanet was established in France by INSERM (Institut national de la santé et de la recherche médicale) in 1997. This initiative became a European effort from the year 2000, financed by contracts from the European Commission: Orphanet gradually transformed into a Consortium of 40 countries, spread across Europe and around the world.

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Website : Orphanet

Alliance Rare Diseases

Alliance Rare Diseases is a national association that federates and represents associations of patients with rare diseases in France. She works for defending the rights of patients, promoting their recognition and strengthening the collective voice of associations public authorities and the general public.

It accompanies its members with training, meetings and support tools, to help them structure their actions and better represent patients. It also leads awareness campaigns as the March of Rare Diseases and International Day of Rare Diseases, as well as regional information and exchange meetings.

The Alliance plays a key advocacy role in health policy and research, participating in the development of national rare disease plans and promoting participatory research for the benefit of those affected.

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Site of the association : AMR

Health products Rare diseases

The mission of Health Rare Diseases is to structure and coordinating the management of people with rare diseases in France. Each « sector » brings together reference centres (MRRCs), competence centres (MRCCs), health professionals, laboratories, researchers, patient associations, and medical-social or educational structures.

These sectors cover defined disease groups (organs, systems, type of pathology), in total there are 23 MRSFs. Their work revolves around four main areas:

Improving care patients throughout their journey — diagnosis, care, transitions (child/adult), emergencies, therapeutic education, links with the medico-social and social.
Coordinate and encourage basic, translational and clinical research on rare diseases.
Developing information, the training and dissemination of knowledge : accessible materials, continuing training, university collaboration, information for professionals or patients.
Maintain coordination at national, European and international level, including through European reference networks, to harmonise practices and ensure access to care and expertise.

The site was launched in 2021 as a national portal « interfilter ». It aims to provide a Single point of entry to access information on all rare diseases: definition, orientation to the right path, tools for professionals and patients, resources, news, specialised centres, etc.

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Website : FSMR

Frequently Asked Questions

FAQ

The announcement of a rare disease remains a painful event in the life of a family. Then we find ourselves deprived of our questions. These FAQ questions are examples among many that we instinctively ask ourselves. We wanted to provide feedback to reassure, support and inform patients, their close friends and all of us.

Is the KIF5C mutation inherited ? Are there any risks to other members of my family ?

The majority of the mutations identified are « de novo », which means that it happens accidentally and that neither of the parents is carrying the genetic anomaly. There is one case in the literature of a family with several children with the same mutation inherited by the mother. The risk of the mutation reproducing is very low but it is best to consult the genetics department to discuss it.

Should we pass a genetic confirmation test ? Where do we get it ?

Following a medical consultation, genetic analyses are indicated on the patient alone or with his parents. A blood test is carried out on the patient and his/her parents and is transmitted to a specialized laboratory with practitioners who are approved by the Biomedicine Agency.

Is there any treatment ? Therapeutic trials ?

There is no therapeutic trial or treatment to date for KIF5C mutation disease. 11 patients were studied in clinical trials.

What is the evolution of the disease ?

Given the rarity of cases, it is difficult to know the long-term evolution of the disease. Nevertheless, the oldest patient identified is 30 years old.

Who should we contact for help in our procedures ?

The doctor, or pediatrician, refer to the genetics department and hospital who relay to the specialized paediatric services and health professionals (neuropediatry / neurology / genetics / CAMSP).

How many patients are there in France ? In the world ?

There is one case in France and around 30 in the world.

How to contact families with a KIF5C diagnosed member ?

You can reach us via the contact form or via the association's Facebook / Instagram and LinkedIn page. A request to be a member is made by a private Facebook group and allows families to exchange.

Can patients with KIF5C mutation walk ? Talk ? Eating solid food ?

After collecting data from 30 families and 2 clinical cases studied, it appears that 43% of patients do not work, 77% of patients do not speak, 33% of patients do not eat solid foods.

Are all patients with KIF5C mutation epileptic ?

60% of children have epilepsy occurring in the first months of life. There are different types of epilepsy depending on the cases identified and crises take different forms. There may be longer or shorter periods without crises. Some children are epileptic from an early age and then seizures cease without resuming. In all cases it is essential to consult a neuropaediatrician.