Pressure for review of EU rare disease framework intensifies ahead of Czech EU Presidency

Improving diagnostic tools and strengthening the incentive system for orphan drugs are among the main suggestions for revising European legislation on rare diseases, a subject included in the priorities of the Czech EU Presidency in matter of health.

In the European Union, there are about 8,000 rare diseases that threaten the lives of citizens, but there is treatment for only 6% of them.

Many EU Member States also face the lack of screening processes that would allow early diagnosis of the disease, a crucial step for possible treatment.

Diseases that only affect a few dozen people a year require a pan-European approach, which is why the European Reference Networks for Rare Diseases were set up in 2017 to facilitate the sharing of knowledge and experience across the world. continent thanks to the 1,500 centers dedicated to it.

Stakeholders are now calling for a review of the current legislation which could reshape the overall approach to rare diseases in the EU.

“Discussions on the revision of European legislation on orphan drugs or access to drugs must be part of a broader framework that also includes diagnostics, healthcare, research and innovation”said Yann Le Cam, Executive Director of the European Organization for Rare Diseases EURORDIS.

The European Commission is expected to develop an action plan on rare diseases, which lawmakers and stakeholders are pushing to adopt by 2023.

“At the heart of the new European legislation, there must be an analysis of the needs of people living with rare diseases, as well as better coordination of individual European and national policies”continued Mr. Le Cam during a conference organized in the Czech Senate in anticipation of the Czech EU Presidency which will begin in July.

Prague is in favor of such a project. The Czech Republic also has great expertise in rare diseases, says Milan Macek, director of the Institute of Biology and Medical Genetics at Charles University in Prague and Motol University Hospital.

Recent changes to the national law on public health insurance — which should make it easier for cutting-edge drugs to enter the Czech market — were seen as a significant change in this regard.

“Rare diseases are one of the three main themes of the health chapter of our EU presidency, the others being pharmaceutical strategy and mental health issues”confirmed the liberal-conservative deputy Roman Kraus, chairman of the Health Committee of the Czech Senate.

70% of rare diseases appear during childhood

The treatment and eventual cure of rare diseases depends on an early diagnosis, but unfortunately most patients still have a long way to go, which takes an average of five years before the diagnosis is made.

Since 80% of rare diseases have a genetic origin and 70% start in childhood, a newborn screening program could help combat them.

“The largest newborn screening programs cover about 50 rare diseases, but there are at least 8,000 in total”says Viktor Kožich, from the Department of Pediatrics and Inherited Metabolic Disorders at Charles University.

He mentioned differences between countries that do not depend on the wealth of this one. Thus, in France, there are screenings for only five diseases, while in Hungary or Portugal, countries that are much poorer, screenings cover around 30 diseases.

The absence of screening programs leads to unnecessary delays in testing, misdiagnosis and, consequently, poor quality treatment.

The solution, say experts, clinicians and patients, should be to raise public awareness, improve existing screening tools and introduce new ones, use more artificial intelligence and consider wider use of tests. genetics.

In addition to early diagnosis, rare diseases also require a comprehensive multidisciplinary approach. Despite the existence of highly specialized centers for rare diseases included in the European reference networks, their capacity is limited.

Modern drugs and incentives

Rare diseases are usually treated with state-of-the-art drugs, the complexity of which is reflected in their price and complicated delivery to patients, with their availability often varying across European countries.

While in Germany an innovative medicine is certified as soon as it is approved by the European Medicines Agency (EMA), in the Czech Republic the medicine must first receive the green light from three other countries. This procedure affects how quickly a sick person can be treated and the success rate of therapy.

The current European regulatory system works well, according to stakeholders, and must remain sufficiently incentive for companies’ investments to be profitable. However, for drugs intended for such a limited group of patients, it is certainly not easy.

“Orphan and pediatric medicines legislation has been so successful so far because it has stimulated research and development in areas where it was needed”said Tina Taube of the European Federation of Pharmaceutical Industry Associations (FEAIP).

She added that the current policy framework has enabled the development of new drugs, but it has also increased public awareness of rare diseases.

However, she stressed that the existing incentive system needed to be strengthened to keep Europe competitive in innovation while increasing the availability of medicines.

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Pressure for review of EU rare disease framework intensifies ahead of Czech EU Presidency


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