Push to revamp rare disease EU framework intensifies before Czech presidency

Given that 80% of rare diseases have a genetic origin and 70% of them start in childhood, a newborn screening scheme could help to tackle rare diseases. [SHUTTERSTOCK/VALMEDIA]

Improving screening tools and strengthening the incentive system for orphan drugs are among the main suggestions for overhauling the European legislation on rare diseases, a topic included in the health priorities of the forthcoming Czech presidency of the EU.

Around 8,000 rare diseases are threatening the lives of European citizens, but only 6% have a treatment.

Many EU countries also face a lack of screening programmes that could allow an early diagnosis of the disease – a crucial step for potential treatment.

Diseases affecting only a few dozen people per year require a pan-European approach. For this reason, the European Reference Networks (ERNs) for rare diseases were set up in 2017 to facilitate the exchange of knowledge and experience across the continent through the 1,500 dedicated centres.

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

“Discussions on the revision of European legislation for orphan drugs or access to medicines must be set in a broader framework that also includes diagnostics, healthcare, research and innovation,” said Yann Le Cam, executive director of the patient organisation EURORDIS.

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

“At its heart, [the new EU legislation] must be an analysis of the needs of people living with rare diseases, as well as better coordination of individual European and national policies,” Le Cam added during a conference organised in the Czech Senate ahead of the Czech EU Presidency which will start in July.

Prague supports such a plan. Czechia also has broad expertise in rare diseases, according to Milan Macek, head of the Institute of Biology and Medical Genetics of Charles University and Motol University Hospital.

The recent amendments to the national Public Health Insurance Act – which should make it easier for super-modern drugs to enter the Czech market – have been considered a significant shift in this regard.

“The topic of rare diseases is one of the three main topics of the health part of our EU Presidency, the others being the Pharmaceutical Strategy and mental health issues,” confirmed liberal-conservative MP Roman Kraus, chairman of the Czech Senate’s health committee.

LEAK: The five political priorities of the upcoming Czech Presidency

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The Czech Republic will take over …

70% of rare diseases start in childhood

The treatment and potential cure of rare diseases depends on early diagnosis, but, unfortunately, most patients still go through a ‘diagnostic odyssey’ that takes an average of five years.

Given that 80% of rare diseases have a genetic origin and 70% start in childhood, a newborn screening scheme could help tackle them.

“The largest newborn screening programmes cover around 50 rare diseases, but there are at least 8,000 rare diseases in total,” explained Viktor Kožich from the department of paediatrics and inherited metabolic disorders at Charles University in Prague.

He mentioned differences among countries that do not depend on wealth, as in France, there are screenings for only five diseases, while in much poorer Hungary or Portugal, screenings cover around 30.

The lack of screening programmes leads to unnecessary delays in testing, misdiagnoses and, therefore, poor treatment.

According to experts, clinicians, and patients, the solution should be to raise awareness, improve existing screening tools and introduce new ones, make greater use of artificial intelligence, and consider broader use of genetic testing.

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

EU calls for stronger cooperation to fight rare diseases

Marking the World Rare Disease Day, Health Commissioner Stella Kyriakides and health ministers called for stronger coordination around rare diseases with high hopes on European Reference Networks (ERNs). 

Modern drugs and incentives

Rare diseases are usually treated with super-modern drugs, whose complexity is reflected in their price tag and convoluted distribution to patients, with availability often varying across Europe.

While in Germany, an innovative drug receives certification as soon as it is approved by the European Medicines Agency (EMA), in the Czech Republic, the drug waits to be given the green light in three other countries. This procedure logically affects how quickly a sick person can be treated and the therapy’s success rate.

The current European regulatory system is working well, according to stakeholders, and must remain sufficiently incentive-based to ensure that companies’ investments pay off. But for medicines for such a limited group of patients, this is certainly not easy.

“The legislation around orphan and paediatric medicines 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 Industries and Associations (EFPIA).

She added that the current policy framework had allowed new medicines, but it has also brought rare diseases to a wider awareness.

However, she pointed out that the existing incentive system should be strengthened to ensure that Europe remains competitive in innovation while increasing the availability of medicines.

Commission: Pharma companies need incentives to develop orphan drugs

The market will not regulate itself when it comes to finding solutions to rare diseases, said Sandra Gallina, director at the European Commission’s DG SANTE, adding there is pressure to kickstart innovation on orphan drugs.

[Edited by Gerardo Fortuna/Alice Taylor]

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