Despite their name, they affect millions of French people: rare diseases are the subject of a new plan, announced by the government after a long delay. While relieved, the associations nevertheless regret that the state is not going further on certain points.
"At least this rare disease plan has the merit of being released," Laurence Tiennot-Herment, president of AFM-Téléthon, one of the main associations involved in the issue, summarized to the press on Tuesday on the sidelines of the launch at the Ministry of Health.
Since 2004, three plans have been implemented in France to combat rare diseases, pathologies that paradoxically affect many French people. Due to their large number, they affect three million of them, or approximately one in twenty.
Some are well known to the general public, such as cystic fibrosis. Others, known as "ultra rare," affect only a few people. They are often genetic and frequently appear at a young age, but this is not systematic.
This context poses many challenges: how can we prevent patients from going years without being diagnosed with a little-known condition? How can we encourage the pharmaceutical sector to develop treatments that are difficult to make profitable given the small number of people affected?
Recent years have seen major developments, such as the arrival on the market of Kaftrio, an effective treatment for certain types of cystic fibrosis. However, many rare diseases remain without therapeutic solutions.
In this context, the new plan had been long-awaited by the associations: the previous one only ran until 2022. Delayed by the political instability of recent years, the arrival of the fourth plan finally provides visibility for five years.
– No “false hopes” –
What does it cover? The new plan largely follows the same principles as its predecessors. "Benefiting from €223 million per year, it addresses all aspects of the disease, from the announcement of the diagnosis to the transition from child to adult, from psychological care to improving the care pathway," summarized Minister Catherine Vautrin on Tuesday, whose broad portfolio ranges from Health to Occupational Health.
The budget indicated by the minister will be primarily devoted to the installation of around 100 new "reference centers." These centers, now numbering more than 600, are healthcare establishments whose staff are qualified to treat one of these diseases.
The plan also includes expanding birth screening. The number of diseases covered will increase from 13 to 16, including a genetic test for spinal muscular atrophy. The government, which was not helped by the difficulty in passing the social security budget, hopes to have it implemented this summer.
Finally, there remains the thorny issue of patient access to promising treatments. Public authorities are forced to strike a difficult balance: giving hope to patients without systematically reimbursing extremely expensive drugs that have not been properly scientifically evaluated.
Work will be undertaken "to be able to adapt early access and compassionate care systems that better take into account the specificities of these diseases," promised Yannick Neuder, Minister of Health, insisting, however, on the need not to "give false hope."
But the issue of new drugs is one of the few blind spots identified by the associations, which are otherwise satisfied with other points of the plan, such as the expansion of healthcare establishments dedicated to rare diseases.
"We were hoping that an innovative model might be discussed," regrets Ms. Tiennot-Herment, while the AFM-Téléthon has long advocated the establishment of a public fund, possibly financed by a tax on pharmaceutical companies, to finance the development of drugs that are not profitable as they stand.
The expansion of neonatal screening also does not fully satisfy the associations. They consider it still insufficient compared to the situation in other countries, such as Italy, where it already covers around forty diseases.
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