Over a long period of time, rare diseases were nearly invisible in national healthcare systems. Due to a lack of knowledge on these very rare and complex diseases, patients, families and caregivers were in the dark and faced extreme difficulties in accessing a diagnosis, appropriate care and treatments.
The Communication from the European Commission in 2008, followed by the EU Council Recommendation on ‘an action in the field of rare diseases’ adopted in 2009, have provided strong political support and guidance to address the challenges faced by the patients, and to foster research.
Rare Disease National Alliances and EURORDIS have been working hand in hand to promote relevant patient-centric, comprehensive, and integrated national policies. They have developed partnerships with key actors, both at national and European level, to ensure rare disease patients receive the same attention and quality of care as other patients.
The Rare 2030 Foresight Study, released in 2021, has issued updated, in-depth recommendations to further develop research and improve health and social care in the field of rare diseases. These constitute a robust base for enhancing national plans.
Why is a rare disease national plan needed?
1. Recognise and address the specificities of rare diseases in a comprehensive manner by setting up a political and legal framework, involving all stakeholders and coordinating all relevant actions at the national and regional level.
2. Implement adequate care pathways for rare disease patients: map out the medical expertise on rare diseases across the country; adopt an official process to designate multidisciplinary Centres of Expertise; facilitate the participation of these centres in European Reference Networks for rare diseases.
3. Identify or establish social services and programmes relevant to rare diseases (resource centres, disability programmes, specialised trainings for professionals…); bridge the gaps between different services through case management.
4. Support basic, translational, clinical and social research.
5. Facilitate the integration of European legislations and policy recommendations relevant to rare diseases into national healthcare and social systems.
6. Acknowledge National Alliances and rare disease patients’ organisations as key and equal partners; involve them in the governance of the plan and decision-making committees of programmes dedicated to healthcare, social care and research.
Shared key documents to develop, implement and monitor RDNPs
The high number of rare diseases (over 6000) as well as the rarity of each disease necessitate a strong collaboration amongst countries to overcome the challenges linked with the provision of adequate care and the development of innovative therapies.
European Union legislation has incentivised research in the field of orphan medicinal products, paediatric drugs, and advanced therapies. The Directive on patients’ rights in cross-border healthcare provides the legal framework of European Reference Networks (ERNs) for rare diseases.
Between 2010 and 2016, the European Commission established two successive expert groups on rare diseases, composed of Member States’ representatives and other stakeholders including patient advocates (coordinated by EURORDIS).
These expert groups adopted key recommendations and indicators on various topics that need to be included in national rare disease plans (NRDP) with a view to implement a coherent European approach to tackle rare diseases and maximise resources.
The work of the expert groups was supported by two EU Joint Actions: EUCERD and RD-ACTION. Recommendations have been, and are further elaborated through the Rare 2030 Foresight Study, and EU projects such as ERDERA (research) and JARDIN (integration of ERNs in national health systems).
The sharing of knowledge and successful practices amongst European countries is encouraged by the rare diseases community to reduce health inequalities.
Click on each topic below to download a list of shared guiding documents:
1. Governance
2. Definition, codification, inventorying of rare diseases and patient registries
- European Recommendations and Indicators for Rare Diseases Codification and Registry
- European Commission Group of RD Experts Recommendations on RD patient registration and data collection
- EURORDIS-NORD-CORD Joint Declaration of 10 Key Principles for Rare Disease Patient Registries
- European Commission Group of RD Experts Recommendations on RDs Codification
- Toolset for implementation of ORPHAcodes into Health Information Systems
3. Research
- European Recommendations and Indicators for Research and Orphan Drugs
- Rare Barometer Survey Rare disease patients’ participation in research
- European Commission Group of RD Experts Cross-border genetic testing of rare diseases in the European Union
- International Rare Diseases Consortium Recommendations Clinical Trials in Small Populations
- Breaking the Access Deadlock to Leave No One Behind
- Early access to medicines in Europe: Compassionate use to become a reality
4. Centres of Expertise and European Reference Networks (ERNs)
- European Recommendations and Indicators for Centres of Expertise and ERNs
- European Commission Group of RD Experts Recommendations Addendum ERN Grouping and patients’ involvement
- About the 24 European Reference Networks for Rare Diseases and Rare Cancers
- EURORDIS Recommendations on the Integration of European Reference Networks into National Health Systems
5. Social services and programmes adapted to rare diseases
- European Recommendations and Indicators for social services and programmes adapted to rare diseases
- Position Paper: Achieving Holistic Person-Centred Care to Leave No One Behind – A contribution to improve the everyday lives of people living with a rare disease and their families (May 2019)
- European Commission Group of RD Experts Support the Incorporation of Rare Diseases Into Social Services and Policies
- Juggling care and daily life: The balancing act of the rare disease community
6. Empowerment of patient organisations
7. Sustainability of the national plan or strategy
EUROPLAN National Conference: A tool for rare disease national plans
The ‘EUROPLAN National conference’ has proven to be an effective tool in supporting countries to develop, adopt and monitor a plan or strategy for rare diseases.
Between 2010 and 2018, altogether 59 EUROPLAN National Conferences took place in 25 EU Member States, as well as in Georgia, Macedonia, Russia, Serbia and Ukraine.
As a result, by the end of 2018, 25 EU Member States plus Serbia had put in place a national plan or strategy for rare diseases, compared to five in 2009.
The strength of the EUROPLAN National Conference model lies in its shared philosophy and format:
- Patient-led: Organised by National Rare Disease Alliances with EURORDIS’ support.
- Multi-stakeholders: Brings together all relevant actors to collect various viewpoints and proposals from national authorities, patients, caregivers, healthcare professionals, academia, industry, social workers and insurers.
- Integrated between European and national level: Participants use the conference as an opportunity to assess the integration of EU regulations, policies and recommendations into national health and social systems.
- Comprehensive: Discuss all strategic areas of a national plan/ strategy, using, where appropriate, joint European documents/recommendations.
EUROPLAN National Conferences were co-funded by the European Commission within first the EUROPLAN project (2008 – 2011) and thereafter, the EUCERD Joint Action (2012 – 2015) and RD-ACTION (2015 – 2018).
