Rare diseases

EU projects supporting cooperation between rare diseases organisations

Projects have been financed under the Programme for Community Action on Rare Diseases in 1999 2003; the EU Public Health Programme 2003-2007 and the second EU Health Programme 2008-2013.

The aims have been  to strengthen collaboration at European level among patient organisations, develop partnerships among all alliances and develop European recommendations and national action plans. The EU action has also aimed to increase the visibility and operational capacity of rare diseases organisations and networks.

The EU has supported several projects by EURORDIS (European Organisation of Rare Diseases). EURORDIS brings together more than 200 rare disease associations in 16 different countries representing millions of patients affected by more than 1 000 rare diseases. The EU has supported EURORDIS projects to gather the information required to help define a public policy on rare diseases, to improve access to quality information on rare diseases and orphan drugs, to organise workshops at European and national level, as well as to produce guidelines and pedagogical documents.

The EURORDIS projects supported by the Public Health Programme are:

The EU Rare Disease Patient Solidarity - RAPSODY project, the objectives of which were to:

  1. exchange information at European level on ways of offering essential services to patients, their organisations and families living with a rare condition which requires a particular concentration of resources and expertise,
  2. compare the quality of services available in different EU Member States for such patients, patients' organisations and families,
  3. identify the main obstacles to the provision of high-quality services,
  4. disseminate identified best practices in the services offered to the patients, patients' organisations and families,
  5. provide services urgently needed to support patients, patient organisations and families, such as a European database for very isolated patients, new EU networks with dedicated web pages and databases with information on relevant help lines, respite care centres and summer camps.

The EU Policy Action and Information for Rare Diseases in Europe - PARACELSUS project, the objectives of which were to:

  1. share rare disease information and knowledge in an enlarged Europe in order to reduce inequalities and provide the basis on which to develop an integrated EU approach to rare diseases, and
  2. demonstrate the importance of EU actions on rare diseases and review progress made so far at a European Rare Disease Conference in 2005 under the Luxembourg EU Presidency. This conference aimed to encourage the involvement of all interested parties and serve to disseminate information and raise awareness of rare diseases.

The EU PARD 3 project - Pan-European Patient Network for Information on Rare Diseases and Orphan Drugs, the objective of which was to gather the information required to help develop a public policy on rare diseases and improve access to quality information on rare diseases and orphan drugs. The methodology was based on a survey, including qualitative and quantitative phases, workshops both at European and national level, an awareness-raising event in the form of the first European Rare Disease Awareness Week and the publication of guidelines and pedagogical documents. This project involved over 500 organisations from 19 European countries and greatly mobilised the rare disease community. The work accomplished is therefore very much the result of shared experiences, and reflects opinions from all over Europe. Tools are adapted to the European situation whilst taking into account the disparity of national administrative and legal systems.

The EU PARD 2 project - New communication technologies (web portal) in the service of the European rare disorders community and sharing good practices in different help services for existing patients (Hotline), the objective of which was to create a web portal on rare diseases and orphan drugs, and to help build a trans-national, cross-disease community of rare diseases patients in Europe. Eurordis role was to guide to the existing resources and to provide tools for action at national level rather than building new databases. Cooperation was therefore developed with existing resources such as Orphanet and NEPHIRD.

The EU PARD 1 project - Orphan medicinal products in the service of persons suffering from rare disorders, the objectives of which were to:

  1. strengthen existing national alliances (Denmark, France, Germany, Italy, Spain, Sweden, UK),
  2. improve collaboration at Community level between rare disorders associations,
  3. develop new national alliances in Europe around the theme of orphan medicinal products (Belgium, Netherlands, Portugal),
  4. develop partnerships among all alliances,
  5. identify needs and problems regarding orphan medicinal products in each country,
  6. share best practice and knowledge,
  7. elaborate action plans in the field both at national and European level,
  8. report evaluation needs,
  9. produce recommendations at national and European level, and
  10. issue a document on 'Access to Orphan Medicinal Products for Rare Disorders in Europe'.

Another important network, NEPHIRD, coordinated by the Centro Nazionale Malattie Rare (Istituto Superiore di Sanità in Italy), includes public health institutions on rare diseases and has received EU support for several projects:

EU NEPHIRD 2 - A European Network for Epidemiological and Public Health
Data Collection on Rare Diseases (Phase 2). The specific objectives of the project, based on the results of the first phase of NEPHIRD were to:

  1. estimate the epidemiological indices (i.e. prevalence, incidence) of a group of RD selected as models in collaboration with existing clinical/diagnostic networks,
  2. asses the quality of life and quality of health care in RD management within the participating countries, and
  3. develop public health indicators for RD.

See NEPHIRD web site

EU NEPHIRD  (Network of Public Health Institutions on Rare Diseases) (Phase 1) - was a survey based on two questionnaires. The first collected information on various aspects of the problem of rare diseases in the participating countries, and the second resulted in an inventory of diagnostics centres and possible sources of systematically collected epidemiological data on eight RD, identified to represent different epidemiological realities. The results of the first questionnaire indicated that public health initiatives have been taken recently in a few European countries, though such initiatives are not homogeneous. The inventory showed that several centres exist which handle a significant number of patients and collect epidemiological data based on local initiatives.

The European Educational Programme on Rare Diseases Project under the coordination of the Clinical Research Centre for Rare Diseases of the Mario Negri Institute for Pharmacological Research (Italy): the project involved several public conferences with the aim of improving communication and co-operation between people professionally interested in rare diseases in Europe and offered education and training opportunities to health professionals, scientists and patient support groups.

Patients' Consensus on Preferred Policy Scenarios for Rare Diseases (POLKA)
Project Leader: European Organisation for Rare Diseases, France

This project is timely and appropriate as it links the EU efforts to the Member States' initiatives and to the interests of patients. The project aims at developing "strategies and mechanisms for exchange of information among people affected by RD". It also aims to "support European Networks of Reference for RD in an effort to establish guidelines for best practice on treatment, and to share knowledge on RD, together with evaluation of performance”. This objective will be pursued through collecting, analysing and presenting in EU conferences RD patients' experiences and views on health policy, with the support of health care professionals, at both national and EU levels.

See POLKA Project

Operating Grant for Rare Diseases (OPERA)
Project Leader: European Organisation for Rare Diseases, France

1. Capacity building of patient organisations in the development of national plans and strategies for rare diseases in more Member States;
2. Increased outreach and involvement of rare disease patient organisations in EU health policy definition;
3. Enlargement and reinforcement of the rare disease networks, and development of tools to exchange information and best practices;
4. Increased outreach and capacity building of rare disease patient representatives into medicines regulatory activities of the EMA. Better understanding by patient representatives of the EU policy making process, and capacity building of patient representatives to fulfill the tasks as provided for by the EU legislation on pharmaceutical products;
5. Improve knowledge via public awareness on rare diseases, improved access to information for patient representatives, patients and their families as well as patient to patient exchange of information on the disease through new online tools.

See OPERA Operational Grant