They are waiting for action “decisive”. The three million French people affected by a rare disease are expecting from the government a fourth national plan against these diseases, the start of which, according to associations and actors in the sector, must be outlined on Thursday, February 29. According to the World Health Organization’s definition, a disease is considered rare if it affects fewer than one in 2,000 people.

More than 7,000 rare diseases have been identified, of which more than 80% are of genetic origin. The most well-known include cystic fibrosis, Ménière’s disease, Huntington’s disease, Charcot’s disease, Crohn’s disease and Duchenne muscular dystrophy. In France, more than 3 million people are affected by this, including the sick person’s environment, i.e. 4.5% of the population. In half of the cases, children under the age of 5 are affected. And they cause 10% of deaths between ages 1 and 5.

“Three hundred million people are affected worldwide”, Yann Le Cam, director general of the NGO Eurordis, which coordinates the International Day of Rare Diseases organized on Thursday, reminded again on Tuesday during a press conference. He calls for one “European Action Plan” on the subject.

Release of 36 million euros

In Europe, France has long been a pioneer, implementing three national plans since 2005, which provide in particular for the creation of specific sectors and the certification of reference centers for the treatment of rare diseases (CRMR), centers of expertise that have become role models.

However, many people remain astray: “Accelerating the fight against diagnostic errors must be a priority” of the new plan, press the actors of the “Rare Disease 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 Health Minister Catherine Vautrin on Wednesday in her answer in the Assembly to a question from MoDem MP Philippe Berta. She specifically mentioned what will be a “Main Element of the Fourth Plan” : unlocking “An additional €36 million that will increase the coverage of centers across the country”.

The associations hope for a number of measures “ambitious and structuring”emphasized on Tuesday Laurence Tiennot-Herment, President of the AFM-Téléthon.

Prenatal screening, the battle horse of associations

Among rare diseases, ultra-rare diseases represent the majority (85%), but each of them only affects fewer than one person per million inhabitants, or a few dozen patients in France. However, the pharmaceutical industry is focusing on diseases that offer commercial prospects, says M^Me Tiennot Herment.

She cites the example of Crigler-Najjar syndrome, which is caused by a deficiency of a certain liver enzyme. “An ongoing clinical trial shows very encouraging results, but a lot of money is still needed before the drug candidate, which no one is interested in, is approved for market.”she regrets. “In the new plan we want no one to be left behind”she insists.

The other focus of the associations concerns diagnosis: in France, thirteen diseases are now recognized at birth (e.g. cystic fibrosis or congenital hypothyroidism). An advance compared to the seven diseases searched for until last year, but we are a long way from certain European neighbors (such as Austria, Spain, Italy or Portugal) who sometimes discover almost thirty.

“We need to advance the prenatal screening program and anticipate therapeutic advances.”argued Christian Cottet from AFM-Téléthon. “Every year in France, around a hundred children are born suffering from spinal muscular atrophy [une maladie génétique]60 of these are affected by the most severe form, which kills babies between 18 and 24 months old.”he illustrated. “While fantastic therapeutic advances have been made that have enabled the children treated to significantly improve their lives, we must put an end to this “failure to help children at risk”! »