Eurordis - Rare Disease Europe

EURORDIS represents the voice of patients and in this capacity plays a central role in the regulatory process. The contribution of EURORDIS has been key to the adoption of important rare disease and orphan medicine legislations at the European level, including the EU Regulation on Orphan Medicinal Products, the EU Regulation on Paediatric Drugs, the EU Regulation on Advanced Therapies, the Commission Communication RARE DISEASES: EUROPE’S CHALLENGES, the Council RECOMMENDATION ON A EUROPEAN ACTION IN THE FIELD OF RARE DISEASES, the EU Directive on Patients’ Rights in Cross-border Healthcare, and others.

By partnering with rare disease national alliances, EURORDIS also contributes to national processes, and facilitates the adoption and implementation of national plans and strategies for rare diseases in European countries.

Thanks to the EU Commission Communication and Council Recommendation on an action in the field of rare diseases, national rare diseases policies and plans have gained momentum.

• Why is a rare disease national plan or strategy needed in your country?

  In previous decades, 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 carers were in the dark and faced extreme difficulties in accessing a diagnosis, appropriate care and treatments.

  The ultimate goal of a national rare disease plan/strategy is to guarantee rare disease patients’ access to timely and adequate medical and social care.

  Five reasons to adopt a national plan for rare diseases in your country:

  1. It helps to 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 in different areas (access to care, access to adapted social services, innovative research, patient registries, participation in European and international research and policymaking…)
  2. National plans are an excellent tool to map out medical expertise on rare diseases across the country. They enable the adoption of an official process to accreditate Centres of Expertise, in charge of providing adequate clinical research, diagnosis and care through multidisciplinary teams of experts.
  3. They make us identify and establish social services and programmes relevant to rare diseases (resource centres, disability programmes, specialised trainings for professionals involved in diagnosing and management of rare diseases), and bridge the gaps between different services through case management.
  4. They establish the framework to better integrate the European legislations and Policy Recommendations  into the national healthcare and social systems (e.g. orphan drugs, paediatric drugs, advanced therapies, clinical trials, cross-border healthcare, European Pillar of Social Rights).
  5. The national plans highlight the added value of rare disease patients’ organisations and National Alliances as key partners and involves them in decision making committees and programmes dedicated to rare diseases in the fields of research, healthcare and social care.
• What is included in a rare disease national plan/ strategy?

  A plan/ strategy includes relevant national measures to improve care at every stage of the patient’s journey, from diagnosis to access to treatments and therapies, through long-term follow-up, social care and services. A national rare disease plan/strategy often includes measures to foster innovative research in the field of rare diseases. Each measure needs to be associated with a defined budget.

  A national plan/ strategy requires a solid governance composed of a multi-stakeholder governing committee (including patient representatives) that monitors the implementation of the national measures against agreed timelines and public health indicators.

• Which strategic areas should be taken into account to build a national plan/strategy?
  1. Governance
  2. Definition, codification, inventorying of rare diseases and patient registries
  3. Research (including development of orphan drugs, innovative treatments)
  4. Centres of Expertise and European Reference Networks (ERNs)
  5. Social services and programmes adapted to rare diseases
  6. Empowerment of patient organisations
  7. Sustainability of the national plan or strategy
• Documents necessary for the design and elaboration of a national plan/ strategy for rare diseases

  These reference documents are organised per strategic area, constituting the national plan/strategy:

  1. Governance

  • • Core indicators to monitor rare disease national plans and strategies (2013)
    • European Recommendations and Indicators for Governance (EU Council_EUCERD_ EUROPLAN)

  2. Definition, codification, inventorying of rare diseases and patient registries

  • • European Commission Group of RD Experts Recommendations on RDs Codification
    • Toolset for implementation of ORPHAcodes into Health Information Systems
    • 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 Recommendations and Indicators for codification, inventorying of Rare Diseases and registries (EU Council EUCERD EUROPLAN)

  3. Research (including development and access to orphan drugs, innovative treatments)

  • • EURORDIS Position on Rare Disease Research
    • 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
    • Patients’ full and equitable access to rare disease therapies in Europe
    • Early access to medicines in Europe: Compassionate use to become a reality
    • European Recommendations and Indicators for Research Orphan Drugs (EU Council EUCERD EUROPLAN)

  4. Centres of Expertise and European Reference Networks (ERNs)

  • • European Commission Group of RD Experts Quality Criteria for Centres of Expertise for Rare Diseases
    • EU Directive on 9 March 2011 on the application of patients’ rights in cross-border healthcare (article 12 on ERNs)
    • European Commission Group of RD Experts Recommendations on European Reference Networks on Rare Diseases
    • 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
    • European Recommendations and Indicators for Centres of Expertise and ERNs (EU Council EUCERD EUROPLAN)

  5. 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
    • Results of the INNOVCare Project (Innovative Patient-Centred Approach for Social Care Provision to Complex Conditions)
    • European Recommendations and Indicators for social services and programmes adapted to rare diseases (EU Council EUCERD EUROPLAN)

  6. Empowerment of patient organisations

  • • Policy Brief on Patient Empowerment
    • European Recommendations and Indicators for Patient Empowerment (EU Council EUCERD EUROPLAN)

  7. Sustainability

  • • European Recommendations and Indicators for Sustainability of a Plan (EU Council EUCERD EUROPLAN)
• EUROPLAN National Conference

  The EUROPLAN National Conferences (co-funded by the European Commission within the EUROPLAN Project [2008-2011], the EUCERD Joint Action [2012 – 2015] and RD-ACTION [2015 – 2018)]) are the tool designed to promote the adoption and implementation of national plans or strategies for rare diseases in European countries based on the Recommendation of the EU Council on an action in the field of rare diseases of 8 June 2009, as well as to facilitate the integration of EU rare disease policies and recommendations into the national health and social systems.

  EUROPLAN National Conferences are jointly organised in each country by a National Alliance of rare disease patient organisations and EURORDIS.

  Key features of a EUROPLAN national conference:

  • Patient-led – they are organised by national Rare Disease Alliances in conjunction with EURORDIS.
  • Multi-stakeholder – national authorities, patients, carers, healthcare professionals, academia, industry, social workers, insurers all attend to exchange on their experiences and perspectives.
  • Integrated between European and national levels – participants use the conferences as an opportunity to assess the integration of EU regulations, policies and recommendations into national health and social systems.
  • Exhaustive – Discuss all strategic areas of a national plan/ strategy, including governance and also rare disease healthcare and research.

  Impact of EUROPLAN National Conferences

  In 2009, only five EU Member States had adopted a national rare disease plan (Bulgaria, France, Greece, Portugal and Spain).

  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. Some National Alliances organised several EUROPLAN conferences in their country.

  As a result, by the end of 2018, 25 EU Member States had put in place a national plan or strategy for rare diseases. Malta, Poland and Sweden are still discussing the adoption of a strategy or plan.

• Rare disease plans and strategies in European countries

  Click on the flag to find the country’s national plan or strategy for rare diseases, as well as the relevant EUROPLAN conference report.