France Launches Fourth National Rare Diseases Plan

On Tuesday, 25th February, French ministers Catherine Vautrin, Yannick Neuder, Philippe Baptiste, and Marc Ferracci announced the launch of the Fourth National Rare Diseases Plan (PNMR4).

This new plan aims to improve care for people with rare diseases, speed up research, and support innovation in healthcare. It is built on three main areas: care, research, and industry, with four key focuses and 26 specific goals to tackle the challenges faced by patients and healthcare professionals.

Better access to specialised care across France

One of the main goals of PNMR4 is to make specialised care more widely available. The plan includes 132 new reference centres for rare diseases, bringing the total to 603 centres across the country, which is a 28% increase. An additional €36 million has been allocated to help these centres operate effectively. This expansion aims to ensure that all patients can access expert care, no matter where they live.

Catherine Vautrin, the Minister for Labour, Health, Solidarity, and Families, highlighted the importance of this plan:

“With this fourth plan, we continue to work tirelessly to ensure that every patient and their family can get a quick diagnosis, the right care, and access to treatments.”

Early diagnosis and better care coordination

The first focus of PNMR4 is to make sure patients get diagnosed as early as possible and receive well-coordinated care. This includes better support during key stages of life like adolescence, pregnancy, and ageing, as well as using digital tools to help manage care.

Yannick Neuder, the Minister of Social Affairs and Health, explained why early diagnosis is so important:

“The sooner we detect a rare disease, the better the treatment and care will be. That’s why we are expanding newborn screening to include three more conditions this year.”

Early detection can make a big difference in managing rare diseases, reducing delays in diagnosis and treatment.

Improving diagnosis through genetic testing

The second focus of PNMR4 is to improve how rare diseases are diagnosed, especially through genetic testing. The plan supports the use of advanced genetic sequencing to help find answers more quickly for patients who have been searching for a diagnosis.

Philippe Baptiste, the Minister for Higher Education and Research, emphasised the role of technology:

“Genomic sequencing and other advanced technologies are essential to shorten the diagnostic journey for patients with rare diseases.”

The plan also aims to enhance prenatal and newborn screening and provide more training for healthcare professionals to improve diagnosis rates.

Encouraging research and innovation

The third focus of the plan is to boost research and encourage the development of new treatments. This includes supporting the use of existing medicines for new purposes, expanding biobanks, and using artificial intelligence to analyse health data more effectively. The France 2030 programme will help fund these efforts, focusing on new biotechnologies and precision medicine.

Marc Ferracci, the Minister for Industry and Energy, highlighted the need for collaboration:

“PNMR4 is a chance to strengthen partnerships between public research and industry to turn scientific discoveries into real treatments for patients.”

Strengthening cooperation across Europe

The fourth focus of the plan is to improve how France works with other European countries to support people with rare diseases. The aim is to share expertise and resources, ensuring that all patients in Europe can benefit from better care and treatments. The JARDIN project, launched in February 2024, is part of this effort to improve how health data is shared and used across Europe.

This European approach is key to making sure that people with rare diseases get the best possible care, no matter where they live.

A strong commitment to people with rare diseases

With PNMR4, France is continuing its long-standing commitment to the more than 3 million people living with rare diseases in the country. By focusing on better care, faster diagnoses, and stronger partnerships, this plan aims to make a real difference to the lives of patients and their families.

For more details, you can read the full Fourth National Rare Diseases Plan (PNMR4) here.