France’s 7000 rare diseases affect more than 3 million people. France is a pioneer in Europe in implementing a national plan for rare diseases. They are reimbursed up to 100% by the French Assurance Maladie.
What is a rare disease?
According to the French Ministry of Labor, Health, Solidarity and Families, a disease is said to be rare when it affects one person in 2000. Rare diseases with no effective treatment are known as “orphan diseases”. The list of rare diseases is available on orpha.net.
Rare diseases in France in figures
In France, rare diseases represent “a major public health challenge, as the 7,000 rare diseases identified to date affect more than 3 million people, or 4.5% of the population. Half of them affect children under the age of 5, and are responsible for 10% of deaths between one and five years of age.[1]
Rare diseases are treated with so-called “orphan drugs”. These benefit from a regulatory framework at European level. European regulations on orphan drugs, supported by France, encourage the development of this type of treatment, notably through Regulation (EC) No. 141/2000 of the European Parliament and of the Council of December 16, 1999 on orphan medicinal products. The aim of this regulation is to establish a Community procedure for designating orphan drugs and encouraging their development and marketing. [2]
Coverage of orphan drugs
Policy on rare diseases and newborn screening
The Mission des Médicaments Orphelins was created in 1995, at the instigation of Simone Veil, then Minister of Social Affairs, placing rare diseases at the heart of France’s major public health concerns. In 2001, the Plateforme maladies rares (Rare Disease Platform) includes several major players in the field, such as Alliance maladies rares, Orphanet and EURORDIS. The National Plan for Rare Diseases (PNMR ) was launched in 2003 by Jean-François Mattei, Minister of Health, the Family and the Handicapped. Four national plans have followed, leading to the creation and labeling of 23 rare disease health networks: by 2023, 122 coordinating rare disease centers of reference will have been labeled, comprising 603 rare disease centers of reference and resource centers. The networks are supported by 1,708 centers of expertise for rare diseases, which provide comprehensive care and follow-up as close as possible to patients. [4]
Neonatal screening is offered to all newborns in France, enabling the presence of 13 diseases to be detected as early as possible. This enables the necessary treatments to be implemented, to avoid permanent sequelae and enable babies to develop in the best possible way. It involves a blood test (heel prick), carried out two or three days after birth by a midwife, nursery nurse or nurse, at the maternity hospital or at home. The diseases screened for are rare and often serious, such as hormonal and metabolic disorders, cystic fibrosis and sickle cell anemia. If the baby is affected, medical follow-up is required, with several possible treatments.
The evolving national plan for rare diseases
France is a pioneer in Europe in the development and implementation of a National Plan for Rare Diseases (PNMR). There are four PNMR. [1]
The aim of the second PNMR 2011-2016 was to boost the quality of care, research and European and international cooperation. In particular, it has led to the renewal of accreditation for centers of expertise and reference, and the ramping up of rare disease health networks.
The third PNMR 2018-2022 focused on prevention and rapid diagnosis for everyone, and on innovation.
Disability policy
Some rare diseases can lead to specific handicaps, known as rare disabilities. Relay teams have been set up in each inter-region to deal with rare and complex disabilities. These teams mobilize specialized resources such as the national centers for rare disability resources (CNRHR), rare disease health networks, centers and local structures. These resources involve the relevant players, guide sufferers and their families, disseminate essential information and support professionals to facilitate care tailored to patients’ needs.
Financing mechanisms
Rare diseases are reimbursed by the Assurance Maladie at the standard rate, in the same way as other diseases, leaving the patient to pay the remainder of the cost (ticket modérateur). Some rare diseases are covered under the long-term disease (ALD) scheme, with medical care and expenses reimbursed at 100% by the Assurance maladie, particularly for costly diseases whose severity and/or chronic nature require prolonged treatment. This coverage can be provided under ALD 30, ALD 31 and ALD 32.
Organizations such as the Maison Départementale des Personnes Handicapées (MDPH ) and the Maison Départementale de l’Aut autonomie, as well as other public bodies (Caisse d’Allocations Familiales, Caisse Primaire d’Assurance Maladie, Caisse d’Assurance Retraite et de la Santé au Travail, Conseil Départemental, etc.) offer information services, assistance and social benefits to people with rare diseases, depending on their situation.
There is a wide range of financial aid available, some of which requires recourse to the MDPH, as well as aid for access to and participation in social life (housing, mobility, transport, culture, leisure, sports).
Financial assistance requiring recourse to the MDPH includes the disabled adults’ allowance, the disabled child’s education allowance, and disability compensation benefits (PCH) (human assistance under the PCH benefit, technical assistance under the PCH, other assistance under the PCH).
Resources for coordination and social support
Orphanet is developing a nomenclature for rare diseases (ORPHA code) to improve the visibility of rare diseases, and contributes to the generation of knowledge on the subject through a professional French and English-language encyclopaedia such as summaries and emergency cards, a database on these diseases and their medications, specialized resources and newsletters.
There is also a national service, Maladies rares info services, for listening to and informing people with rare diseases and their families, which can be contacted by telephone, e-mail or via a dedicated forum, from France and abroad, as well as other support systems. Other services include Surdi Info Service (the national deafness information center), the perinatal and parental guidance service for people with disabilities, and the local information and coordination center.
Patient associations also provide moral, practical, financial, social and legal support to patients and their families:
- Alliance maladies rares, created in 2000, bringing together more than 240 rare disease associations, lobbying public authorities and the France Assos santé health collective.
- EURORDIS, a European alliance of more than 1,000 associations of people living with rare diseases in 74 countries, managed by people living with rare diseases.
More information on rare diseases is available on the French government website.
DISCLAIMER OF LIABILITY
This blog is a compilation of relevant information on the subject. All information has been retrieved from the documents referenced in each section.
[1] Rare diseases, Sante.gouv.fr
[2] For further information: Orphan drugs, sante.gouv.fr
[3] For more information on orphan drugs in Europe: Orphan drugs in Europe, Orpha.net
[4] Rare diseases: challenges and prospects for research in France, Sante.gouv.fr
