Eurordis - Rare Disease Europe

Another Step Closer: Why Europe should keep striving toward an Action Plan for Rare Diseases

On 25-26 October, the Czech government will host a milestone conference that should take us one step closer to the delivery of a comprehensive, EU-wide rare disease strategy. EURORDIS and its members have been calling for such a European Action Plan for Rare Diseases since it emerged as the main recommendation of the Rare 2030 study in 2021. The Czech Presidency of the Council of the EU – which comes to an end in December 2022 – has been striving to foster a consensus on an Action Plan.

What do we hope will come out of this conference?

The Czech Deputy Minister of Health, Jakub Dvořáček, will present a Call to Action and proposal for a European Action Plan for Rare Diseases. This is an important stand from the Czech Presidency that we hope will see wide-ranging support from other Member States and experts at the conference. 

A European Action Plan for Rare Diseases would bridge the gaps between all actions and initiatives on rare diseases at the national and European level. A critical element of a proposed Action Plan would be the establishment of goals ensuring that every rare disease initiative, across every Member State, works in the same direction. 

The conference programme outlines policy areas where progress could be made under a European approach. This includes:  

• Supporting initiatives to improve early diagnosis, including harmonised newborn screening at the EU level. Reducing the time to diagnosis is key to opening the door to specialised clinical and social care. 

Only finding out the name of the disease – a diagnosis – when Rocío was already 31 years old, when she was already grown up, brings problems. It brings up things that you might have done differently, or better, knowing what we know now.

Rosa, the mother of Rocío, who lives with PACS1 syndrome in Spain 

• Taking the opportunity to revise the Orphan Medicinal Products and Paediatric Regulations to define a model based on unmet needs, as only 6% of rare diseases have a known treatment. 

Because we need to ignite curiosity and build awareness among scientists. Then inspiration will follow and pave the way to rare disease research and diagnosis.

Gulcin, Spain  

• Exploring instruments to improve access to treatments for rare diseases to place innovation into the hands of patients and their families. 

… when the EMA approves effective and safe medicines for the market, each and every country will go through a different process of negotiations to get the drug reimbursed. This takes too long. [A drug that could help me] is not reimbursed in the Netherlands and Belgium, while it is accessible in 21 other European countries!

Jacqueline, the Netherlands   

• Integrating European Reference Networks into national healthcare systems, as well as sharing other good practices to deliver person-centred care. 

We really need to make sure that there are harmonised standards in each country; that there is an exchange of information. This is absolutely key to improve the situation and treatment for the patient, and of course also the emotional situation of the family. At the end of the day, despite nurses, doctors, therapists, the burden is carried by the family.

Jutta, Germany    

These areas would form important pillars of an EU-wide strategy, which need bringing together in a coherent way.

What has been the role of our rare disease community?

Our rare disease community have been the main drivers of the broad political consensus that has developed on the need for an Action Plan. This consensus spans both the previous French Presidency and current Czech Presidency of the Council of the EU, and spans political divides within the European Parliament (see MEPs’ letter to the European Commission).  

If we persist at every opportunity in calling for a strategy, the result will be a European Commission that sits up, listens, and acts on the unmet needs of people living with rare diseases. 

Why are we calling for a European Action Plan on Rare Diseases? 

Each of the 30 million living with a rare disease across Europe and those close to them still await a comprehensive framework of EU actions, underpinned by targets and measures of success. 

People living with a rare disease currently have high unmet needs. They undergo unacceptably long, exhausting journeys toward a diagnosis. Many never receive access to treatments. 52% of people living with rare diseases or their carers report that their rare condition has a severe impact on their daily lives[1]. Better public policies can overcome these injustices. 

The European Commission’s 2008 Communication on rare diseases, with the subsequent Council Recommendation one year after, was a cornerstone piece of legislation enabling many successes, including spearheading dedicated national plans across European countries. Yet this Communication is outdated given the major scientific breakthroughs and regulatory changes we have seen since 2008, and the Commission has regrettably failed to fully return to the question of how to improve the lives of people with rare diseases across a full breadth of policy areas. 

The coming Expert Meeting in Prague on 25 and 26 October will be vital to place rare diseases higher on the Commission’s agenda. 

What goals should a European Action Plan include? 

The Czech Government and EURORDIS are calling on Member States and EU Institutions to develop an Action Plan that would allow people living with rare diseases to:  

1. Have a better and longer life. 

2. Have equal opportunities, wherever they live. 

3. Benefit from innovation. 

We must work together toward these common goals. These goals would guide concrete policy actions across countries and across diseases, greatly improving the lives of those we represent. 

Share these goals with your nation’s policy makers on social media using the hashtag #30millionreasons. 

[1] EURORDIS (February 2022) #30millionreasons for European action on rare diseases. P.35

Julien Poulain, Communications Manager