The fourth rare disease plan was expected this Thursday, February 29, International Rare Disease Day. Health Minister Catherine Vautrin announced that it will ultimately be presented before the summer of 2024. “We must do everything we can to improve their care”she announced on the X network. She outlined the ambitions: a “Massive investment” of 36 million euros and the certification of 132 new expert centers (603 in total).

A disease is considered “rare” if it affects fewer than one in two thousand people. In total, more than 3 million people in France and 30 million people in Europe are affected by these diseases. Lupus, cystic fibrosis, Duchenne muscular dystrophy, sickle cell anemia, Crohn’s disease… Almost 7,000 rare diseases have been identified so far, of which about 80% are genetic and 70% occur before the age of 18.

Professor Agnès Linglart, President of the French Society of Pediatrics, coordinator of the Oscar for the healthcare sector for rare diseases (Network of Actors in Rare Bone, Calcium and Cartilage Diseases) and Professor Guillaume Canaud, nephrologist at Necker Hospital (AP-HP), have been appointed by the government to coordinate the fourth plan for rare diseases.

“Diagnosing a rare disease is still a major challenge and despite immense progress, only 5% of rare diseases benefit from treatment for their indication.”, underlines the Ministry of Health in a press release dated February 29. There is a “Hole in the racket” For extremely rare diseases, one person in a million, accounting for 85% of rare diseases, Laurence Tiennot-Herment, president of the French Association against Myopathies (AFM)-Téléthon, estimated during a press conference on February 27: “Clinical trials are being conducted, but industry is not interested. A public fund is needed to finance access to treatment. »

More than five years until diagnosis

The actors of the “Rare Diseases” platform. – a resource center that brings together representatives from patient groups and health and research experts – has long denounced the migratory nature of patients, who on average take more than five years to receive a diagnosis. “We need to work with health workers on the culture of doubt, which boils down to one question: What if it was a rare disease?” emphasizes Agnès Linglart. We regularly see people arriving who have been wandering for years. In most cases, they showed early symptoms that did not raise any alarms. »

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