Doctrines, articles & opinions

Open data: a rising opportunity for rare diseases. A short analysis and quick definition by BlueDil of the impact of open data on the rare disease word.

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What is EURORDIS?

EURORDIS is a non-governmental alliance of patient associations created in 1997, driven by patients themselves. It federates 910 rare disease patient organizations in 72 countries. It is the voice of the 30 million people affected by rare diseases in Europe.
By linking patients, families and patient groups, bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the voice of patients and contributes to the development of research and public health policies and patient services.

For more information go to => https://www.eurordis.org/fr/qui-nous-sommes


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What are European Reference Networks (ERN)? What is their role?

 

In 2017, the first European Reference Networks (ERNs) were created, under the aegis of the European Commission. These ERNs are networks in which healthcare actors from all over Europe participate, based on the model of the French rare disease networks.
The ERNs involve more than 900 highly specialized care units and more than 300 hospitals in 26 Member States. There are 24 European Reference Networks of which 8 of the coordinators are French.
Their objectives are :
- To improve clinical care by developing guidelines, training and sharing knowledge.
- Ensure the participation of key stakeholders, including patients and patient associations.
- Develop research activities and clinical trials to improve understanding of the disease.
- Implement new information systems to enable clinical collaboration.

For more information go to => https://ec.europa.eu/health/ern/networks_en

 


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What is the European Joint Programme on Rare Diseases (EJP MR)? What is their role?

The EJP MR brings together more than 130 institutions (including 24 European reference networks) from 24 countries to create an ecosystem adapted to the creation of a virtual circle between research, care and medical innovations. This program brings together 26 EU member countries, the USA and Canada. This project, led by France, aims to consolidate and structure European research on rare diseases.

If you want more information go to => https://www.ejprarediseases.org/index.php/about/


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What do you know about Alliance Maladies Rares? How many associations does it bring together? How many patients does it represent?

Created on February 24, 2000, the Alliance Maladies Rares (association under the law of 1901) now brings together more than 200 patient associations. It represents nearly 2 million patients and approximately 2,000 rare diseases. It also welcomes isolated patients and families, "orphans" of associations.
It is, as the preamble to its statutes states, "a collective, a movement and a network... It is a union that respects the identities and autonomy of each of its members, and does not replace them.
The Alliance is present throughout France's regions through its 12 regional delegations.

 

For more info go to =>https://www.alliance-maladies-rares.org/nos-partenaires/nous-connaitre/

 


[1 month, 1 rare disease, 1 organization] Charcot Marie Tooth

Every month, BlueDil focus on a different rare and severe disease.

 

  • Charcot-Marie-Tooth, what is it?

Charcot-Marie-Tooth (CMT) disease, from the names of its three discoverers, is a rare and little-known neuropathy. However, it is estimated that 30,000 to 50,000 people are affected in France, making CMT the most common rare disease!

Of genetic origin, CMT affects the peripheral nerves. These nerves connect the spinal cord to muscles and sensory organs to transmit messages from the brain to the different limbs. This information is motor when it concerns movement or sensory when it concerns the perception of touch and pain; the combination of this information also helps to maintain balance.

Charcot-Marie-Tooth disease affects between 1 person/1,200 and 1 person/2,500.

In the WCL, it is often referred to as an "invisible handicap" because the difficulties are sometimes little perceptible or underestimated. The number and degree of severity of symptoms also vary greatly from one person to another. Understanding the CMT is thus made more difficult for the patient's family and friends, as well as the establishment of the diagnosis for health professionals.

 

  • What treatment?

To date, there is no curative treatment for CMT, but research is advancing. Patients can improve their quality of life through multidisciplinary care: use of devices (orthoses, lifts, etc.), physiotherapy and self-rehabilitation sessions, adapted physical activity, psychological follow-up, technical aids, etc.

 

  • A word from the President

"Our association CMT-France is celebrating its 30th anniversary this year, managed by patients or parents of patients, with its 2,000 members, it provides information, help and support. Raising awareness among the public but also among doctors is essential. Charcot-Marie-Tooth disease, a degenerative peripheral neuropathy, is rare, genetic and hereditary and unfortunately very little known, yet there are nearly 40,000 patients in France. Thank you for giving us this visibility. »

Martine Libany, President of CMT-France

 

To know more on CMT-France

Discover more about CMT with the 4e awareness campaign


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What is Orphanet?

Orphanet is an information portal on rare diseases, created in 1996 jointly by INSERM and the DGS, first in French and then translated into six other languages to become the global reference portal.

Orphanet is a unique resource, gathering and improving knowledge on rare diseases, in order to facilitate and improve the diagnosis, care and treatment of patients with rare diseases. Orphanet's objective is to provide high quality information on rare diseases and to allow the same access to knowledge for all stakeholders (researchers, patients, caregivers...). Orphanet is also developing Orphanet's nomenclature on rare diseases (ORPHA code), which is essential for improving the visibility of rare diseases in health and research information systems.

For more information go to => https://www.orpha.net/consor/cgi-bin/index.php?lng=FR


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What major ambitions do the PNMR3 and the France 2025 genomic medicine plan share?

NMRP3 and the France Genomic Medicine 2025 plan share the ambition to reduce diagnostic wandering and deadlock. The objectives pursued are to structure and standardize the diagnostic approach to reduce wandering and to regularly reconsider the files of people in diagnostic deadlock in order to arrive at a diagnosis in line with the progress of the state of the art.

 


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What does the National Plan for Rare Diseases 3 (2018 to 2022) provide for its financing? Is it comparable to the NRP2 funding?

The total funding of PNMR3 is €777M over 5 years, i.e. approximately €155M allocated per year.
In 2015, according to the DGOS, health institutions and rare disease health sectors have been financed to a total of €144.5M (€128.9M ONDAM to health institutions treating rare diseases [excluding rare cancers] + €15.6M MIG from rare disease health sectors).
NMRP2 did not detail the funding by strategic axis. NMRP3 introduces this detail.

For more information go to => https://solidarites-sante.gouv.fr/IMG/pdf/plan_national_maladies_rares_2018-2022.pdf

 


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What are the 11 strategic axes of the National Plan for Rare Diseases 3 (2018-2022)?

 

Axis 1 - Reduce wandering and diagnostic deadlock
Axis 2 - Advance neonatal screening and prenatal and pre-implantation diagnostics to allow earlier diagnosis
Axis 3 - Sharing data to promote diagnosis and the development of new treatments
Axis 4 - Promote access to treatments for rare diseases
Axis 5 - Giving new impetus to research on rare diseases
Axis 6 - Fostering the emergence of and access to innovation
Axis 7 - Improving the care pathway
Axis 8 - Facilitating the inclusion of people with rare diseases and their caregivers
Axis 9 - Training health and social professionals to better identify and manage rare diseases
Axis 10 - Strengthen the role of the rare disease healthcare systems in healthcare and research issues.
Axis 11 - Clarify the positioning and missions of other national rare disease stakeholders.

 

For more information go to https://solidarites-sante.gouv.fr/IMG/pdf/plan_national_maladies_rares_2018-2022.pdf