EU calls for stronger cooperation to fight rare diseases

European Commissioner for Health and Food Safety Stella Kyriakides. [EPA-EFE/JULIEN WARNAND]

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)

In Europe alone, about 36 million people have a rare disease. According to the Commission, while one rare disease might affect only a few, another may touch as many as 245,000

“I am calling for stronger EU cooperation to make sure that all patients across the EU living with a rare disease have access to the highest standards of diagnosis, treatment and care they need,” said health Commissioner Stella Kyriakides in a ministerial conference organised by the French Presidency of the EU Council on Monday (28 February)

Olivier Véran, French health minister, said that “it is our hope that thanks to the action of the Union, no patient living with a rare disease is left without solutions.”

While there are over 6,000 distinct rare diseases, “we still do not have answers for 95% of rare diseases,” said Kyriakides, calling this situation “unfortunate” and adding that “this must change”.

The vast majority of rare diseases are of genetic origin and start in childhood.

Kyriakides said that the European health union should protect and care for every citizen. “This is why, together with the French Presidency, we are working towards a stronger EU response on rare diseases,” she said. 

But it seems that there is a lot of work ahead. A report on Rare paediatric neurological diseases focusing on Europe, published last week (23 February), pointed out the differences among different countries.

The report stated that “some patients may need to travel abroad to access new therapies because their home country lacks specialised centres, which, due to their very nature, are not established in all countries.”

It was highlighted that “an effective EU cross-border healthcare framework is critical to enable patient access to advanced therapies for severe and rare genetic diseases.”

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Hopes on European Reference Networks

To step up the fight against rare diseases, high hopes fall on European Reference Networks (ERNs).

24 European Reference Networks (ERNs) is an EU-wide cooperation project, which helps share knowledge and expertise in the bloc. 

They are virtual networks involving healthcare providers across Europe. The aim is to facilitate discussion on complex or rare diseases and conditions that require highly specialised treatment and concentrated knowledge and resources, as is stated on the Commission’s website.

That is important as “many rare diseases are ultra-rare, meaning there may only be a handful of patients with a specific condition in Europe and few specialists experienced in managing them”, explained Dorica Dan, chair of Romanian Prader Willi Association and one of the experts of the Rare paediatric neurological diseases report.

On 1 January this year, 620 new members joined the Network, “increasing both the geographical scope and the diseases covered to now more than 1,400 specialised centres across all Member States,” Kyriakides said. She added that “this will enable more patients to get much-needed expertise closer to them, and will help health professionals to expand their knowledge and find solutions”.

ERNs are called “a major step in the right direction” in the Rare paediatric neurological diseases report. But it is added that “aspects of their work still need improvement”.

The Commission is evaluating the Cross-border Healthcare Directive and how to improve cooperation on rare diseases and European Reference Networks. Funding of €26 million for improving the operation of EU’s Networks is also set. 

Kyriakides announced that “later this year, we will also launch a Joint Action to expand the work on integrating the Networks into national healthcare systems.”

“This is something that many patients, carers and healthcare professionals have asked for,” Commissioner added.

The ministerial conference also highlighted the importance of “a Joint Action to support the integration of ERNs into national health systems, through their centres of reference for rare diseases”, according to the press release.

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In the absence of the EU orphan drugs regulation, which focuses on rare diseases, approximately two million patients would not get access to therapies, a new industry-funded report has found.

Digitalisation, research, innovation

Commission’s health service DG SANTE also highlighted the importance of the European Health Data Space is due to be unveiled in the coming weeks. It will include EU-wide registries, which, she said, is “a key element of the Networks’ activities.”

Their importance is also highlighted in the Rare paediatric neurological diseases report, where they are referred to as “essential tools for research in understanding the disease and developing new treatments”.

“[They] provide data on patterns of genetic mutations and symptoms, natural disease progression, delivery of care and treatment outcomes, including long-term safety and effectiveness,” the report states.

It is also highlighted that the scope of current registries is limited, as they are based on the place and type of treatment, and there are limited comprehensive national or Europe wide registries.

But it is not only about sharing knowledge; it is also about research and innovation. The EU’s Orphan Medicinal Products (OMP) regulation was adopted more than 20 years ago to regulate medicines that treat patients with rare diseases. But now, it needs updates.

“We will reform the legislation on medicines for rare diseases to foster innovation and ensure faster developments and more timely and equal access to medicines for rare diseases,” the health chief promised. 

The Commission allocated over €2.4 billion “to support multinational research projects related to rare diseases under our research funding programmes”.

Kyriakides added that “With funding support from the EU4Health programme, we will also set up a new Virtual Academy to train rare disease experts and enhance the Clinical Patient Management System.”

[Edited by Gerardo Fortuna/Alice Taylor]

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