They are waiting for “decisive” measures. The three million French people affected by a rare disease are waiting from the government for a fourth national plan against these diseases, the beginning of which must be outlined on Thursday February 29, according to associations and players in the sector. According to the World Health Organization’s definition, a disease is said to be rare when it affects fewer than one in 2,000 people.
More than 7,000 rare diseases have been identified, more than 80% of which are 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 affect 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 cases, they affect children under 5 years old. And they cause 10% of deaths between 1 and 5 years old.
“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 on Thursday, recalled Tuesday during a press conference. He calls for a “European action plan” on the subject.
Release of 36 million euros
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 twenty years,” assured Wednesday the Minister of Health, Catherine Vautrin, responding in the Assembly to a question from MoDem deputy Philippe Berta. 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”.
The associations are hoping for a series of “ambitious and structuring” measures, underlined Tuesday Laurence Tiennot-Herment, president of the AFM-Téléthon.
Prenatal screening, the battlehorse of associations
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, according to Ms. Tiennot-Herment.
She cites the example of Crigler-Najjar syndrome, 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. “In the new plan, we want no one to be left behind,” she insists.
The other main focus of the associations concerns diagnosis: France currently detects thirteen 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 (such as Austria, Spain, Italy or Portugal) who sometimes detect nearly thirty.
“We need to give a boost to the prenatal screening program, anticipating therapeutic progress,” argued Christian Cottet, from AFM-Téléthon. “Every year, in France, there are around a hundred births of children with spinal muscular atrophy [a genetic disease], sixty of whom are affected by the most severe form, which kills babies between 18 and 24 months.” , he illustrated. “While fantastic therapeutic advances have taken place, allowing treated children to have vastly improved lives, we must stop this “failure to assist children in danger”! »
