Opinion of the European Economic and Social Committee – Leaving no one behind: European Commitment to Tackling Rare Diseases (Exploratory opinion at the request of the Hungarian Presidency)
Date: 2024-10-23
Institutions: European Economic and Social Committee
Subjects: EU financing, action programme, health care, health legislation, medical research, mental illness, orphan disease, orphan drug, research policy








C_202500115EN.000101.fmx.xml












Official Journal of the European Union


EN
C series













C/2025/115


10.1.2025






Opinion of the European Economic and Social Committee

Leaving no one behind: European Commitment to Tackling Rare Diseases


(Exploratory opinion at the request of the Hungarian Presidency)

(C/2025/115)


Rapporteur: 
Ágnes CSER






Request by the Hungarian Presidency of the Council


Letter of 14.3.2024




Legal basis


Article 304 of the Treaty on the Functioning of the European Union




Section responsible


Employment, Social Affairs and Citizenship




Adopted in section


3.10.2024




Outcome of vote (for/against/abstentions)


80/1/3




Adopted at plenary session


23.10.2024




Plenary session No


591




Outcome of vote (for/against/abstentions)


183/6/36




1.   Recommendations









1.1.


The EESC welcomes the request for an exploratory opinion of the Hungarian Presidency entitled Leaving no one behind: European Commitment to Tackling Rare Diseases and calls on the Commission to:






—


publish a communication containing a comprehensive European Action Plan (APRD) with SMART targets that can be achieved by 2030 to enable the diagnosis of rare disease (RD) patients within one year; introduce an effective horizontal coordination model for Commission bodies dealing with RD and cross-border healthcare;










—


set up a Steering Group for the European APRD composed of experts from Member States, EURORDIS members and the EESC to ensure horizontal coordination and cooperation, monitoring and supervision of the APRD;










—


encourage agreements with Member States on the content, updating, application and monitoring of national plans for RD;










—


guarantee financing and feasibility, ensure the planning of EU health programmes, Horizon Europe and other financial programmes and ensure significant budgetary resources for health in the Multiannual Financial Framework for 2028-2035.
















1.2.


The EESC welcomes the conclusions of the EPSCO Council of 21 June 2024 (1), which include calling on the Commission and the Member States to continue and intensify work on RD under the Healthier Together initiative, including the publication of a communication.












1.3.


The EESC proposes recognising RD patients as a disadvantaged group and making sure they receive the appropriate allowances and benefits that implies.












1.4.


The EESC recommends that the APRD set not only common and measurable goals that will help define and implement national plans and strategies for RD, encourage Member States and continue cooperation at EU level, but also include targeted incentive mechanisms to promote research and innovation, particularly in the areas of advanced diagnostics, precision medicine and gene therapy. These efforts should be supported by partnerships between academic institutions, healthcare providers and industry, ensuring that research findings are rapidly translated into clinical practice, thus improving the quality of life and treatment options for those affected by rare diseases. The EESC proposes the establishment of a European Rare Diseases Innovation Hub to share best practices and foster public-private partnerships, thereby accelerating the development of new treatments and diagnostics. APRD should include concrete measures to support national, regional and local health authorities as well as civil society organisations (including but not limited to patient organisations) in their efforts to ensure that RD patients have access to high-quality and affordable care under the RD programme.












1.5.


The EESC expresses its concern about the huge shortage of healthcare workers in the EU, including staff mapping people with RD. Existing human resources for patients are under disproportionate and extreme pressure in many countries, and therefore further analysis and discussions are needed in this area.












1.6.


To strengthen diagnostic capacities, the EESC calls for specific training and improvement not only for healthcare workers, but also for social workers and social welfare staff to be able to care more effectively for people with RD, help them in their daily lives and meet their psychosocial needs. Training of teachers and educators in childcare facilities and schools is also important to promote prevention and diagnostics.












1.7.


The EESC recommends that the European APRD include guidelines and resources for the EU4Health programme and the research programme to improve access to diagnostics and care.












1.8.


The EESC proposes that the Commission set up a group of experts from Member States that also includes representatives of civil society and the EESC, particularly patient organisations, healthcare providers, health insurance funds and industry (pharmaceutical products, medical devices, etc.).












1.9.


The EESC recommends that the European APRD, in cooperation with the European Disability Platform and the Commission, provide guidance to Member States to ensure that all people with RD and disabilities can receive appropriate support and participate in everyday life on an equal basis with others.




2.   Background and general comments









2.1.


In Europe, an RD is one that affects fewer than five in 10 000 people, and very rare – one in 50 000. In many cases this concerns highly complex illnesses that are potentially fatal, chronic or degenerative. Most of them entail a disability, reduction or loss of independence which affects patients’ quality of life. The physically and mentally demanding long-term care that the patient needs causes significant upheaval to family life. The psychological burden is borne both by the patient and their family. 50-75 % of cases concern children. 7 000 to 8 000 types of rare disease have been recorded, 80 % of which are genetic and 70 % of which emerge in childhood. 95 % of cases remain untreated and take between four and six years to diagnose.












2.2.


RD pose a significant burden on healthcare, care systems and society. Responses and initiatives have been developed haphazardly. As a result, there is no integrated assessment system (indicators, standards, follow-up, etc.).




3.   The EESC is committed to rare disease patients









3.1.


The EESC’s 2009 opinion on the Proposal for a Council Recommendation on a European action in the field of rare diseases (2), and its 2022 opinion on Ensuring strong European solidarity for rare disease patients (3) drew the attention of the EU institutions to their responsibility towards rare disease patients.












3.2.


In 2022, under the Czech Presidency of the EU, the Council called for the development of a European APRD.












3.2.1.


This APRD should contain common and measurable objectives that directly address unmet needs and ensure equal opportunities in all Member States through:






—


improved health outcomes (reduced diagnostic time),










—


reduced inequality,










—


boosting innovation.
















3.2.2.


Early diagnosis (perinatal and neonatal screening) significantly reduces mortality and morbidity associated with RD and improves quality of life by speeding up access to care.




4.   Recommendations of the EESC conference in Bilbao in 2023









4.1.


During a conference jointly organised with the Spanish Presidency of the Council of the EU, the EESC evaluated work carried out since 2004 by NGOs, patient organisations, doctors, researchers, healthcare providers and political decision-makers, the European Parliament, the Commission and the Council and progress made on RD and strategic challenges facing the EU.












4.2.


The European APRD on rare diseases should ensure access to diagnosis in due time as well as comprehensive life-long care regardless of where a patient lives in the EU. The main challenges are as follows:






—


strengthening and integrating the 24 European Reference Networks (ERNs) created in 2017 and national networks of specialised service providers;










—


integration of healthcare and social services for RD patients and recognition of their disability so they can receive adequate support that allows them to live independently;










—


the possibilities offered by the regulation on the European Health Data Space (EHDS) in terms of research priorities and resources;










—


affordability of treatments and development of new therapies.
















4.2.1.


The Commission must put the APRD in place in 2024 to speed up implementation of national plans and collection of data and to stimulate cooperation between agencies and health systems at EU level.












4.2.2.


In order to strengthen the ERNs and ensure they are integrated into Member States’ health systems, it is necessary to put an EHDS in place that is interoperable within the EU.












4.2.3.


The EHDS introduces new opportunities for ERN registers and makes it possible to standardise electronic health data for secondary use across borders. By establishing minimum specifications for datasets, it fosters a harmonised approach to collecting data with high societal impact. It is important to have good quality standardised information to understand rare diseases, carry out scientific research, develop clinical trials and help develop new orphan medicines so that the EHDS can describe the natural history of the diseases, identify patients to enrol in clinical trials and monitor the results thereof, study the safety of use and effectiveness of innovative medications and quantify patients’ unmet needs. ERN registers are a valuable resource for clinicians working to shorten the diagnostic process.












4.2.4.


Research on RD must be improved so that they can be diagnosed within one year.




5.   JARDIN 2024: the role of ERNs and data communities









5.1.


During the conference jointly organised by the EESC and the Commission’s DG SANTE in 2024, integration of ERNs into Member States’ health systems and work carried out by Member States and EU institutions since 2004 were evaluated.












5.2.


Throughout the last 20 years, the Commission has invested over three billion euro in research on RD. This has made it possible to identify more than 550 new RD and to carry out many cross-border projects such as ERICA and Solve-RD.












5.3.


ERNs also contribute to EU-funded public-private projects such as Conect4Children or Screen4Care. Under Horizon Europe, the European Partnership on Rare Diseases (ERDERA) will bring together representatives of Member States and ERNs, as well as other stakeholders, including industry.












5.4.


ERDERA, with EUR 150 million co-financing from Member States and the Commission under the Horizon Europe research and innovation programme, will be launched in September 2024.












5.5.


250 orphan medicines have been authorised and around 2 000 products have been designated as orphan medicines and are in the development phase. A programme dedicated to developing medical devices for treating children with RD received EUR 18.75 million in funding under the EU4Health programme, which also enabled ERNs to be better integrated into national health systems and patient pathways to be developed. This includes EUR 3.75 million funded by EU Member States, Norway and Ukraine.












5.6.


ERNs require continuous support and a European Platform on Rare Diseases should be developed:






—


support for the EU’s Orphanet portal on orphan medicines, which develops and updates the system for coding rare diseases (ORPHAcodes). Orphanet is currently only available in seven EU languages. A new EU agency that stakeholders could consult in all official languages should be established;










—


increased funding for greater effectiveness: EUR 77 million of direct support to ERNs for their work in the 2023-2027 period and to measure their outcomes using 24 impact indicators;










—


synergy must be created between the different European Health Programmes, as for example Europe’s Beating Cancer Plan (EBCP) does not have an action plan for rare paediatric and adult cancers, and they are not included in the ERDERA work programme either;










—


establishment of a European Partnership on Rare Diseases by the Member States and the Commission;










—


development of the Clinical Patient Data Management System (CPMS): a new simplified IT platform compatible with the General Data Protection Regulation (GDPR) for cross-border consultation and access to care for RD.
















5.7.


The EESC supports the recommendations on JARDIN: joint action is needed in the field of RD.












5.7.1.


The EU and the health ministers of the Member States must make the issue of RD a priority.












5.7.2.


JARDIN and the ERNs should foster synergies between care and research, Horizon Europe and EU programmes, in particular around diagnostics and clinical outcome assessment. Research efforts for RD patients under ERDERA and those concerning healthcare under JARDIN should be coordinated.












5.7.3.


Integration of ERNs into Member States’ health systems:






—


membership in ERNs and national networks and involvement of patient organisations;










—


integrated Member States and cross-border care pathways, particularly those that allow centralisation of highly specialised healthcare services at Member State or EU level;










—


Member State adoption and implementation of ERN guidelines;










—


the possibility for all ERN members to use ORPHAcodes and extract interoperable datasets;










—


sustainable funding for ERNs at EU and Member State level;










—


monitoring the effects of integration.
















5.7.4.


The EESC calls on the Member States to show political leadership so that solidarity-based health insurance systems offer RD patients protection and prevention measures and so that financial obstacles do not affect the care offered to them. A governance structure should be put in place that promotes the integration of Member States and initiates dialogue with the RD community in the patient’s country to set clear priorities.






—


A roadmap should be established for integrating ERNs into Member States’ health systems.










—


Diagnosis and treatment of RD is costly and the Member States’ should be encouraged to use effectively the available EU funding.










—


Data on RD at Member State level should be structured in such a way that they can be shared at EU level.










—


Member States should set up an RD authority responsible for coordination at Member State and EU level.










—


It should be possible to enter and share data on RD patients in the electronic registers of healthcare providers.










—


An appropriate funding from the available EU resources and digitalisation mechanism is needed to allow for ERNs to be integrated at Member State level.










—


Particular attention should be paid to human resources as part of this integration.










—


The financial model used by the ERNs should be standardised according to the indicators agreed by these networks.










—


A quality certification standard should be implemented and applied to each ERN.
















5.7.5.


The EESC supports uniform regulation at Member State level because:






—


privacy protection is not the same in all Member States;










—


interoperability is still a major obstacle;










—


the lack of common rules on data sharing;










—


differences between Member States in how AI is used, as this requires regulation on the secondary use of data;










—


JARDIN proposes solutions to integrate ERNs into Member States’ health systems for data management purposes.
















5.7.6.


Legislative interventions and EU funding together have been instrumental in building an ecosystem.












5.7.7.


The Cross-Border Healthcare Directive, the Health Technology Assessment Regulation, the implementation of the EHDS and the Pharmaceuticals Package form the basis on which to work towards a stronger EU that protects RD patients.




6.   In spring 2024, the European Parliament and the Council reached a political agreement on establishing the EHDS, which:







—


enables the electronic processing of citizens’ personal health data and the exchange of data within the EU;










—


promotes the creation of a single market for electronic health record systems;










—


provides a framework for the use of health data for research, innovation, political decision-making and regulatory activities (secondary use of data).




7.   The EESC and the European Conference of patient organisations (EURORDIS) on RD and Orphan Medicinal Products (ECRD)









7.1.


The EESC supports EURORDIS’s vision and its proposals on RD patients for a world where people suffering from RD can live longer and in better conditions and realise their full potential in a society that leaves no one behind. To this end, it is necessary to:






—


recognise them as citizens in their own right and fully respect their rights;










—


diagnose their illness in a timely and accurate manner;










—


support comprehensive and integrated life-long social and healthcare services and ensure that patients can live independently;










—


integrate them into society in all areas of life and enable them to live independently and participate in all areas of society on an equal basis with others.
















7.2.


At the 12th European Conference on Rare Diseases and Orphan Products (ECRD 2024) the RD community (patients’ representatives, policy-makers, professionals and representatives of the Member States) presented proposals aimed at improving the health values of over 30 million European patients suffering from RD, as well as their quality of life and that of their families. In their open letter, they called on the EU to develop, without delay, a comprehensive European APRD, which transcends policy areas and will have a significant impact on both EU and Member States’ policies.












7.3.


The EESC agrees that ‘Health must not be sacrificed, and we should all work together to protect and ensure a strong and resilient European Health Union (4).’ It is therefore in favour of keeping health at the top of the priorities of the next term of office of the European Parliament and the Commission, with significant budgetary allocations for health in the 2028-2035 Multiannual Financial Framework.












7.4.


There is a need for cooperation in European health, going beyond crisis preparedness. Health spending is an investment and a driver of the EU’s competitiveness.




8.   The EESC welcomes the fact that the conclusions of the EPSCO Council of 21 June 2024
                      (5)
also mention rare diseases when it calls on the Commission and Member States to commit to preventing mental and non-communicable diseases by ‘implementing and completing in a stepwise manner an overarching, integrative, comprehensive and multi-sectoral EU-level approach, to support the implementation of effective policies in the area of NCDs, including as strands, action plans on rare diseases’.



Brussels, 23 October 2024.


The President


of the European Economic and Social Committee

Oliver RÖPKE
               





(1)  
            https://data.consilium.europa.eu/doc/document/ST-11597-2024-INIT/en/pdf.

(2)  Opinion of the European Economic and Social Committee on the Proposal for a Council Recommendation on a European action in the field of rare diseases (
OJ C 218, 11.9.2009, p. 91).

(3)  Opinion of the European Economic and Social Committee on Ensuring strong European solidarity for rare disease patients (own initiative opinion) (
OJ C 75, 28.2.2023, p. 67).

(4)  
            https://download2.eurordis.org/pressreleases/20240610-EURORDIS-Welcomes-New-MEPs.pdf.

(5)  
            https://data.consilium.europa.eu/doc/document/ST-11597-2024-INIT/en/pdf.




ANNEX
The following amendments, which received at least a quarter of the votes cast, were rejected during the discussions (Rule 74(3) of the Rules of Procedure):

Amendment 2

SOC/806
European Commitment to Tackling Rare Diseases
Point 5.7.4
Amend as follows
Tabled by:
CSER Ágnes






Section opinion


Amendment




The EESC calls on the Member States to show political leadership so that solidarity-based health insurance systems offer RD patients protection and prevention measures and so that financial obstacles do not affect the care offered to them. A governance structure should be put in place that promotes the integration of Member States and initiates dialogue with the RD community in the patient’s country to set clear priorities.


The EESC calls on the Member States to show political leadership so that solidarity-based health insurance systems offer RD patients 
guaranteed
 protection and prevention measures and so that financial obstacles do not affect the care offered to them. A governance structure should be put in place that promotes the integration of Member States and initiates dialogue with the RD community in the patient’s country to set clear priorities.










—


A roadmap should be established for integrating ERNs into Member States’ health systems.












—


A roadmap should be established for integrating ERNs into Member States’ health systems.














—


Diagnosis and treatment of RD is costly and the Member States’ should be encouraged to use effectively the available EU funding.












—


Diagnosis and treatment of RD is costly and the Member States’ should be encouraged to use effectively the available EU 
funding and the
 funding 
gap in Member States’ health systems needs to be filled at EU level
.














—


Data on RD at Member State level should be structured in such a way that they can be shared at EU level.












—


Data on RD at Member State level should be structured in such a way that they can be shared at EU level.














—


Member States should set up an RD authority responsible for coordination at Member State and EU level.












—


Member States should set up an RD authority responsible for coordination at Member State and EU level.














—


It should be possible to enter and share data on RD patients in the electronic registers of healthcare providers.












—


It should be possible to enter and share data on RD patients in the electronic registers of healthcare providers.














—


An appropriate funding from the available EU resources and digitalisation mechanism is needed to allow for ERNs to be integrated at Member State level.












—


An appropriate funding from the available 
and necessary
 EU resources and digitalisation mechanism is needed to allow for ERNs to be integrated at Member State level.














—


Particular attention should be paid to human resources as part of this integration.












—


Particular attention should be paid to human resources as part of this integration.














—


The financial model used by the ERNs should be standardised according to the indicators agreed by these networks.












—


The financial model used by the ERNs should be standardised according to the indicators agreed by these networks.














—


A quality certification standard should be implemented and applied to each ERN.












—


A quality certification standard should be implemented and applied to each ERN.









Outcome of the vote:








In favour


:


59




Against


:


145




Abstention


:


23







ELI: http://data.europa.eu/eli/C/2025/115/oj
ISSN 1977-091X (electronic edition)