They are waiting for “decisive” measures.
The three million French people affected by a rare disease are awaiting from the government the results of the fourth national plan, the ambitions of which were outlined on Thursday.
If we refer to the definition of the World Health Organization, a disease is said to be rare when it affects less than one person in 2,000. More than 7,000 rare diseases have been identified, of which more than 80% of genetic origin.
Cystic fibrosis, Ménière's disease, Huntington's disease, Charcot's disease, Crohn's disease, Duchenne muscular dystrophy are among the best known.
In France, they concern more than 3 million people if we take into account the entourage of the sick person, or 4.5% of the population.
In half of the cases, they affect children under 5 years old.
And they cause 10% of deaths between 1 and 5 years old.
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“Three hundred million people are affected in the world,” Yann le Cam, director general of the NGO Eurordis, which coordinates the international day of rare diseases, organized this Thursday, recalled Tuesday during a press conference.
He calls for a “European action plan”.
In Europe, France has long been a pioneer, implementing, since 2005, three national plans which have notably included the creation of special sectors and the certification of reference centers for the management of rare diseases (CRMR) - expert centers that have become models.
However, many people still remain misguided.
“Accelerating the fight against diagnostic error must be a priority” of the new plan, urge the actors of the “rare diseases platform”, which brings together associations, private and public actors, employees and volunteers.
“The government's desire is to continue the efforts made over the past 20 years,” Minister of Health Catherine Vautrin assured Wednesday.
She notably mentioned what will be a “major element of the fourth plan”: the release of “an additional 36 million euros which will make it possible to increase the coverage of centers throughout the territory”.
According to a press release from the ministry, this sum aims to “label 132 new reference centers”, bringing the number of sites to 603.
A lack of commercial prospects?
The plan as a whole will only be revealed in the “first half of the year”, the minister said on Thursday, traveling to the Kremlin-Bicêtre hospital.
It should make it possible to “progress on diagnostics, screenings, therapies in order to seek solutions that allow patients to be able to recover the best possible life,” she outlined.
The associations are awaiting “ambitious and structuring” measures, Laurence Tiennot-Herment, president of the AFM-Téléthon, emphasized on Tuesday.
Within rare diseases, ultra-rare diseases are the majority in number (85%), but each only affects less than one person per million inhabitants, or a few dozen patients in France.
However, the pharmaceutical industry focuses on diseases offering commercial prospects, underlines Ms. Tiennot-Herment.
She cites the example of Crigler-Najjar disease, caused by a deficiency of a specific liver enzyme.
“An ongoing clinical trial is showing very encouraging results but a lot of money will still be needed before marketing authorization for the drug candidate, which interests no one,” she regrets.
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The other main focus of the associations concerns neonatal diagnosis: France currently detects 13 diseases at birth (such as cystic fibrosis or congenital hypothyroidism).
Progress compared to the seven diseases that were searched for until last year, but we remain far from certain European neighbors who sometimes detect nearly 30.
“We need to give a boost to the neonatal screening program, by anticipating therapeutic progress,” argued Christian Cottet, of the AFM-Téléthon.
“Each year in France, there are around a hundred births of children with spinal muscular atrophy, 60 of whom are affected by the most severe form, which kills babies between 18 and 24 months,” he said. illustrated.
“While fantastic therapeutic advances have taken place, allowing treated children to have greatly improved lives, we must stop this
failure to assist children in danger
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