France plays an pioneer role in the rare diseases field: it is the first country in Europe to have drawn up and implemented a national plan.
Pushed by non-profit organizations, rare diseases became a major public health concern, with the permanent support of public authorities. In 1995, Simone Veil, health minister, created the orphan drugs mission. In 2003, minister Jean-François Mattei announced, as part of the 2004-2007 public health law, a strategic plan to improve the care of people with rare diseases: the 1st national rare disease plan was thus launched.
To reduce diagnostic wavering in rare diseases and structure care offer organization, the 1st National Plan for Rare Diseases has gradually set up a labeling of reference centers and an indexing of regional or inter-regional competence centers for rare diseases.
The multi-site reference centers cover the entire national territory.
Reference centers gather together a highly specialized hospital team with proven expertise for a rare disease – or a group of rare diseases – and which develops its activity in the fields of care, education-training and research. This team is medical but also includes paramedical, psychological, medico-social, educational and social skills.
Reference centers have 6 goals:
In 2008, reference centers apparatus was completed by competence centers. They were identified by the reference centers and designated by the regional hospital agencies (ARH) has a local network.
A competence center provides care access and follow-up for people with rare diseases as close as possible to their home in conjunction with the multi-site reference centers on which it depends functionally. It also provides telemedicine activity for people in its geographical area.
It brings together a specialized hospital team with proven expertise for a rare disease. He makes the link with health professionals of the territory.
French Healthcare networks are organizations that aim at leading and coordinating actions between the different actors involved in rare diseases care.
They were created by the Ministry of Health and launched in 2013 as part of the 2nd National Plan for Rare Diseases 2011-2016. Their role is to coordinate and decompartmentalize to improve continuum between research, diagnostic innovation, patient care and medico-social follow-up.
Each healthcare network gather numerous players: Reference Centers for Rare Diseases and attached Competence Centers, care structures working with the centers, laboratories and diagnostic platforms, social and medico-social professionals and structures, fundamental, applied and translational research groups and patients organizations.
The National Rare Disease Data Bank – also know as the BNDMR – is a database at the service of rare diseases care sites. It is a priority of the National Rare Diseases Plan 2, funded by the Ministry of Health. The AP-HP (a groupement of hospitals in Paris) has been mandated to ensure project management of the BNDMR, mainly through an application called BaMaRa.
This national database aims at providing France with a homogenous collection of data based on a minimum dataset to document the care and health status of patients with rare diseases in the French centers, and to better evaluate the effect of national plans.
The 24 ERNs launched in Vilnius in March 2017 by the European Commission are designed to fight especially rare and complex diseases, or diseases with low prevalence. These virtual networks connect European experts in rare diseases. They concern more than 900 highly specialized healthcare units from more than 300 hospitals in 26 Member States. Thanks to a specific IT platform and telemedicine tools, all teams across the EU share knowledge and thus ensure the best possible care to patients without any travel in another region or country.
There are 8 networks in France.