2024-03-01 08:32:17
While the 3rd National Plan for Rare Diseases (PNMR3, 2018-2022) made it possible to achieve ambitious objectives in the field of diagnosis and treatment monitoring with the establishment of two national observatories managed by the 23 disease health sectors. rare, its extension to 2023 was an opportunity to carry out intense evaluation work and preparation of a 4th plan (PNMR4) of which the first milestones have been initiated.
If the first plans made it possible to reduce diagnostic wandering and impasse, the PNMR4 will have to strengthen the development of therapies and innovation so that access to treatments becomes more and more effective for people affected by a rare disease.
In 2024, making a diagnosis of a rare disease still remains a major challenge and despite immense progress, only 5% of rare diseases benefit from treatment for their indication.
The 4th National Rare Disease Plan (PNMR4) will take these issues into account by improving diagnostic possibilities (importance of the hospital city link, information, training and awareness), by strengthening the link to genomic medicine, for precision medicine and treatments and by being part of a strong and proactive French policy to strengthen health innovation in the coming years.
The first actions of the PNMR4 are materialized in particular by the certification of 132 new rare disease reference centersan increase of 28% (published in the BO on December 29, 2023) for the operation of which the Ministry of Labor, Health and Solidarity has released an envelope of nearly 36 million euros in new credits.
With now 603 centres experts, this effort by France strengthens its network in the regions and overseas territories. This anchoring is one of the bases which positions France as a leader in this public health policy at the European level. The launch on February 1, 2024 of the JARDIN joint action (Joint Action Rare Disease INnovation) will see France coordinate the European working group on the sharing of rare disease health data and their reuse.
As we celebrate the 20th anniversary of the 1st National Rare Disease Plan, the Government has entrusted two qualified, eminently recognized people with the task of establishing recommendations for care, for research and innovation in order to ensure our country remains at the forefront within the framework of PNMR 4.
Thus Professor Agnès Linglart, pediatrician and researcher, specializing in rare diseases affecting the skeleton and growth, and Professor Guillaume Canaud, professor of nephrology and more recently of therapeutics at the Necker Enfants Malades hospital and at the University of Paris Cité , have been leading working groups bringing together more than 300 people for several months in order to identify key actions to be implemented around the following themes:
the journey of life and careemphasizing the importance of the link between the city and the hospital, the training of professionals and the information of everyone and in particular of people affected by a rare disease; le diagnosticwith the development of the observatory for the diagnosis of rare diseases, genomic medicine in connection with the France Genomic Medicine Plan, the importance of neonatal screening and fetopathology; innovations and treatmentswith increased coordination of stakeholders in the data collection process to facilitate and anticipate the construction of collections for early access and the compassionate prescribing framework and strengthen the secondary reuse of health data; collection of health data and biological samples in care and research pathways.
Rare diseases (around 7,000) concern more than 3.5 million of our fellow citizens and around 25 million people in Europe.
Since 2004, three successive national plans have consolidated French leadership in the field of rare diseases through the creation, among other actions, of the National Rare Disease Data Bank (1.5 million patients identified), 23 health sectors relying today on 603 reference centers rare diseases (reference centers, competence centers, resource and competence centers) for global monitoring as close as possible to sick people.
In order to maintain and strengthen this excellence, recognized at the international level, the ministers announce the first flagship actions, a major milestone towards the PNMR4, which will be deployed in the coming weeks. These next actions are carried out by mobilization of all stakeholders in the field of rare diseases in an approach of co-construction and the essential contribution of patient associations and their loved ones to the definition and implementation of the policy in favor of rare diseases which the Government wishes to amplify.
For more information on rare diseases
Contacts presse :
Ministry of Labor, Health and Solidarity
Office of Ms. Catherine Vautrin
Email: Sec.presse.tss@social.gouv.fr
127, rue de Grenelle
75007 PARIS 07
Ministry of Economy, Finance and Industrial and Digital Sovereignty
Office of Mr. Roland Lescure
Email: presse@industrie.gouv.fr
139, rue de Bercy
75572 Paris Cédex 12
Ministry of Labor, Health and Solidarity
Office of Mr. Frédéric Valletoux
Email: sec.presse.sp@social.gouv.fr
14, avenue Duquesne
75007 PARIS
Ministry of Labor, Health and Solidarity
Office of Mrs. Sylvie Retailleau
Email: secretariat.communication@recherche.gouv.frr
21, rue Descartes
75005 PARIS
1709442003
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