Debate: A European Action Plan Against Rare Diseases
Date: WEDNESDAY, 24 NOVEMBER 2021
Speaker: Stella Kyriakides
Language: EN

For ourselves and for those of us who know the area of rare diseases, we can understand that, given the limited number of patients and the scarcity of relevant knowledge and expertise, EU action is even more important in rare diseases, and this is where there is real added value. That is why we have been active in this area for over 20 years.  If I may just share with you, I have worked in the area of rare diseases with children, and I know the need to raise awareness on this, but I also know the loneliness faced by families when they have to deal with a child with a rare disease and not knowing where to turn. So it’s time we developed a wide range of activities to support the Member States and EU level cooperation.  The EU has really done a great deal over the last 20 years, and its response has focused on some key elements. First of all, promoting the development of national rare diseases plans and strategies, which need to be in place; establishing and supporting European Reference Networks (RFNs), which are possibly one of the best examples of EU cooperation, action and support; supporting the definition and inventory of rare diseases, which broadens the knowledge base; providing incentives for the development of medicines for rare diseases; and empowering patient organisations.  The EU Orphan Regulation has clearly stimulated research and development of medicines for rare diseases, but when we look at the numbers, we can see that more needs to be done, since 95% of rare diseases still do not have treatment, and orphan medicines are not accessible to patients equally in all Member States. That is why, as part of the EU Pharmaceutical Strategy, an important report will be voted upon in this House today. We will review the current rules to foster innovation, especially where it is needed most, and to make medicines more available across the EU.  The determination to ensure that all rare disease patients, children and adults, have access to the best knowledge, diagnosis and treatment is at the very core of our efforts. The European Reference Networks are key to achieving this goal. It’s a truly innovative system, a model of virtual healthcare and collaboration, bringing together the most specialised centres across the EU to speed up diagnosis, to improve standards of care and to generate knowledge for patients living with rare and complex diseases. Their guiding principle is quite a simple one: that it is the knowledge that travels, not the patient. The patient doesn’t have to travel, bringing those who are rare together, and this is really important.  Funding is key, and the EU4Health Programme includes the European Reference Networks as one of its specific objectives and will contribute to further evolution of the system. I also want to take this opportunity to emphasise the substantial EU investment into research on rare diseases, with more than EUR 1.8 million allocated to 320 multinational consortia. Horizon Europe, including the proposed European Partnership on rare diseases, will continue to support this effort.  Early next year, I will be here in this plenary to present to you a proposal to launch a European Health Data Space. A lack of data is a crucial challenge for rare diseases, and the European Health Data Space will make it easier to gather data from all corners of the EU and to make it available to researchers working on innovative treatments. Many rare disease patients also actively want to share their own data for research and development for this reason. The European Health Data Space will make it much easier for them to do so.  In 2022, we will conclude the evaluation of the Cross-border Healthcare Directive, including its provisions on the cooperation on rare diseases and European Reference Networks. It will provide us with important evidence and inform our assessment of the current approach to rare diseases. There will be two additional processes that will inform that assessment. The evaluation of the Third Health Programme, which funded key actions in the field of rare diseases, and the outcomes of the ‘RARE 2030’ Pilot Project, which has been proposed by this House. We’re going to be building on all these collective lessons, and the conclusions will then be discussed in the Steering Group on Promotion and Prevention, and with all relevant stakeholders at the end of next year. If appropriate, we will revise our policy framework for rare diseases in 2023, in addition to the upcoming reform of legislation for medicines for those with rare diseases and for children at the end of next year. I’m a believer that we need to evaluate and where we need to change, to bring about change.  Honourable Members, there are concrete plans that will improve our approach to rare diseases. I am really looking forward to hearing you today, to having the opportunity to discuss this with you, and to really bringing together all the expertise and knowledge. Because working together with all the stakeholders – including patients, families, doctors and others – we can really bring tangible benefits to citizens. Thank you very much, and I look forward to hearing your views.