Treatments and diagnosis for rare diseases: crucial issues

The availability of treatments and the end of diagnostic delays are major challenges for people with rare diseases. AFM-Telethon and the actors of the Rare Disease Platform are mobilising and calling on the public authorities to demand a 4th french National Plan for Rare Diseases that takes these issues into account.

Despite the real progress made by the three National Plans for Rare Diseases (PNMR), the lack of treatment and diagnostic delays remain crucial issues: 95% of the 7000 rare diseases do not have curative treatments and 25% of French people affected by a rare disease have to wait an average of 4 years for a reliable and precise diagnosis.


Inventing new solutions for the development of treatments for diseases without a “business model”

Today, the market focuses on the diseases with the most commercial prospects, leaving the rarest and most complex diseases behind. However, innovative therapies have shown their effectiveness in the first rare diseases, opening the way for others and even for more frequent diseases.

Faced with this situation, it is necessary for the public authorities to take back control. The AFM-Telethon proposes the creation of FITURARE, a public fund for intervention and innovation in the treatment of ultra-rare diseases with no prospect of commercial profitability. FITURARE, which could be created within the framework of PNMR 4, would intervene by financing therapeutic projects whose prospect of financial profitability is insufficient for private investors.

“France has been innovative in providing patients with access to treatments without a marketing authorisation. It has also been a pioneer in the fight against rare diseases. Today, France must create a financial mechanism to allow the development of and access to treatments for diseases without a commercial model. For the tens of thousands of patients affected by diseases that are often fatal, there is no alternative plan! FITURARE is a pragmatic tool, complementary to existing mechanisms, which can rapidly provide therapeutic solutions to patients whose lives are threatened a little more each day. All that is needed is a strong political will”, says Laurence Tiennot-Herment, President of the AFM-Telethon.


Diagnostic delays: an awareness campaign

One person in four waits more than 4 years to be referred to a rare disease expert centre. The Rare Disease Alliance is launching a campaign to raise awareness among the general public and frontline health professionals about rare diseases, diagnostic delays and the solutions that exist to reduce them.

“3 million French people suffer from a rare disease. Diagnostic delays are a terrible ordeal for everyone who experiences them, with physical, psychological, family, social and financial damage. However, today there are quality information services, Maladies Rares Info Services and Orphanet, to guide affected people towards rare disease expert centres. The Alliance maladies rares has therefore decided to launch a campaign to raise awareness of the diagnostic wandering of people living with rare diseases and to call for action and information, the first necessary steps to speed up diagnosis,” says Hélène Berrué-Gaillard, President of Alliance maladies rares.


Co-construction of a 4th French inter-ministerial National Plan for Rare Diseases

As initiators and drivers of the fight against rare diseases in France and in Europe, the actors of the Plateforme Maladies Rares ask that the work of co-construction for a 4th French National Plan for Rare Diseases starts without delay.

The development of treatments and the fight against diagnostic error must be the main priorities of the next National Plan for Rare Diseases.

To meet the challenges ahead, it is imperative that this plan be truly inter-ministerial, mobilising the Ministers of Health and Prevention, Higher Education, Research and Innovation, and also the Ministry of the Economy, Finance and Industrial and Digital Sovereignty.