Edition of 10 October 2015

On 15 September, over 50 participants from across Europe attended the Final Conference of the EUCERD Joint Action. This event was organised to show case the achievements of the Joint Action, which ran from March 2012 to November 2015, and to analyse the current state of the art of rare disease activity across the European Union, by exploring progress and remaining challenges in key areas such as healthcare, social care and research. The even was a good opportunity to strenghten collaborations with the stakeholders present and relevant initiatives in the field, and to provided the apt moment to hand over the activities led by the Joint Action to the next Joint Action on rare diseases, RD-Action (see Editorial).

The outcomes of the EUCERD Joint Action, in particular the resources and recommendations elaborated in collaboration with the European Union Committee of Experts on Rare Diseases and EC Expert Group on Rare Diseases, were presented in the morning session. Participants heard about topics as diverse as quality of care and centres of expertise, RD European Reference Networks, social services for RD, cross-border genetic testing and the codification of rare diseases. The work lead in the context of the Joint Action in support to the EUCERD and Commission Expert Group on Rare Diseases has led to the adoption of 5 recommendations in the past three years, with two other recommendations, on genetic testing and social care under discussion currently. In terms of important resources for the community, the Joint Action also supported the elaboration of the annual report on the State of the Art of Rare Diseases Activities in Europe, a 'go-to' source of information on activities in the field of at national and European level aimed at promoting the exchange of information and monitoring the implementation of rare disease policy: this report will continue to be produced in a more dynamic format in the future RD-Action (see Editorial).

The presentations of the activities of the Joint Action were followed by three sessions dedicated to priority areas in the field of rare diseases, informing participants about the latest outcomes of a number of European projects in each area and the efforts made by the EUCERD Joint Action to explore synergies and to link this work into the discussions at the level of the EC Expert Group on Rare Diseases.

The first of these sessions was dedicated to Rare Disease Research, Therapeutics and Translation into the Sphere of Health, with presentations from the Rare Best-Practices project, Burqol-RD, a project aimed at exploring the impact of health policies, interventions and treatments in the field of rare diseases, the transnational research support mechanism E-Rare, and the International Rare Disease Research Consortium concerning the impact of IRDiRC policies at national level. The main issued discussed during this session was that of sustainability of the resources produced via these initiatives, and the importance in particular of research into health economics, as regards rare diseases, to inform the implementation of rare disease policies at national level.

The following session explored the integration of the results of a number of initiatives concerning rare disease registries, a field where the EU has invested resources through a multitude of projects (such as EPIRARE, the EUCERD Joint Action, and the PARENT Joint Action) with a view to developing an appropriate model for a European Platform for Rare Disease Registration. This platform, recently created at the EC's Joint Research Centre in Ispra, Italy, has to date taken over the responsibilities for the management of the central support of the Eurocat congenital anomalies registry, and the European Surveillance of Cerebal Palsy registry. Stakeholders in the field of rare diseases are still waiting from the JRC confirmation of the governance structure, road map and list of services to be provided by the Platform. In particular, Member States who are in the process of creating national rare disease registration systems, or who are considering this direction, are looking for confirmation of the possible support that will be provided, and the guidelines for interoperability (such as a minimum data set) which could be expected.

The final session was dedicated to national plans and strategies for rare diseases, in particular support to the implementation of national activities in this area. The EUCERD Joint Action, continuing the activities of the Europlan project (2008-2011) supported the organisation of over 20 national conferences and debrief sessions across Europe with the close collaboration of national patient alliances and organisations, to ensure the tranmission of European recommendations at national level and appropriate support to Member States in the elaboration and/or implementation of their initiatives. To date, nearly all European Member States have adopted a plan/strategy for rare diseases, with those not yet having adopted a plan in the final stages of elaboration. The next challenge will be the implementation of these plans/strategies, for which very few have a dedicated budget and for some of which need to be translated into concrete actions. The EUCERD Joint Action, through the national conferences and an analysis of these plans, has been able to extract a number of good practices that could help Member States in the implementation of their plans, which will be available shortly.

The day finished by establishing the list of possible priorities in the rare disease policy field to be explored by the Expert Group on Rare Diseases with the support of the new RD-Action for rare diseases (see Editorial). The Commission and the Coordinator of the EUCERD Joint Action, Kate Bushby, thanked the partners and the many participants in the conferences and workshops organised over the past 3 years, for their hard work and wished them success in the future work of the next Joint Action.

The report of the conference will soon be available online.

The House of Representatives in Philippines recently approved a comprehensive policy on services for patients with rare diseases that will provide them with timely and adequate access to healthcare, information, and products to treat their conditions. This will be done primarily through the establishment of a comprehensive and sustainable health system for identification, referral, and management of patients with rare diseases—integrated within the current public health system; and the inclusion of rare disease benefit package in PhilHealth.

The bill stipulates giving regulatory and fiscal incentives to support research and development activities on rare diseases and manufacturing of affordable drugs or products. Likewise, the bill provides for the design and maintenance of a rare disease registry containing data on cases, patients, drugs and products for rare diseases. Data from the registry will be used in policy formulation. The provisions in the bill are set to address the current challenges being faced by patients afflicted with rare diseases, their families and caregivers, and their healthcare providers.

This bill defines a rare disease as one that affects 1/20,000 in the Philippines. It provides a preliminary list of rare diseases and the provision of inclusion of others under the advisement of the National Institute of Health in the United States.
Read the report on this topic by National Academy of Science and Technology, Philippines