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ERA-NET rare disease research implementing IRDiRC objectives

Periodic Reporting for period 1 - E-Rare-3 (ERA-NET rare disease research implementing IRDiRC objectives)

Reporting period: 2014-12-01 to 2015-11-30

Rare diseases are diseases that affect not more than 5 per 10 000 persons (according to the EU definition). 7000 distinct rare diseases exist, affecting between 6% and 8% of the population (about 30 million EU citizens). The lack of specific health policies for rare diseases and the scarcity of the expertise, translate into delayed diagnosis, few medicinal products and difficult access to care. That is why rare diseases are a prime example of a research area that strongly profits from coordination on a European scale.
The E-Rare consortium was built to link responsible funding bodies that combine the scarce resources and fund rare disease research via Joint Transnational Calls (JTCs). The current E-Rare-3 action will extend and strengthen the transnational cooperation by building on the experience and results of the previous E-Rare programmes.
E-Rare pursues its funding activities and beside the co-funded call foresees to launch 3 additional JTCs without the contribution of the EC.
The first Co-funded JTC of E-Rare-3 (JTC2015) aimed at enabling scientists from different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. 17 countries participated and a total of 231 eligible pre-proposals were submitted. After careful examination by the Scientific Evaluation Committee (SEC), 55 pre-proposals were selected for full submission. Following the second SEC and ranking of the best projects, 19 consortia with a foreseen total budget of about 19.35 Mio € including 4.6 Mio € of EC contribution, were selected for funding.
The funded projects cover a wide range of rare diseases including hematologic, metabolic, neurologic and dermatologic diseases as well as congenital malformations while addressing potential therapeutic options using state-of-the-art techniques like pluripotent stem cells, gene therapy and customized animal models.
The second JTC (JTC2016) focused on Clinical research for new therapeutic uses of already existing molecules (repurposing) in rare diseases following the objectives of International Rare Diseases Research Consortium (IRDiRC). 15 countries participated in this call with the total budget estimated at 17 Mio €. In addition, the National Center for Advancing Translational Sciences (NCATS) (USA) expressed its interest joined for the first time an action taken by E-Rare consortium since the creation of IRDiRC.
To monitor the JTCs, previously established indicators and monitoring/reporting forms were updated and an on-line monitoring tool was put in place. E-Rare is organizing yearly Monitoring Meetings that gather coordinators and partners of funded projects. A monitoring committee composed of previous E-Rare Scientific Evaluation Committee members and other relevant stakeholders chair the sessions, interact with researchers and prepare suitable feedback reports for all projects.
E-Rare international dimension is directly translated into close collaboration with International Rare Diseases Research Consortium (IRDiRC) and other relevant European and international initiatives. The collaboration with IRDiRC has been strengthened through a series of actions. Among them is the renewal of the “E-Rare Group of funders” commitment to participation in IRDiRC. The group has been enlarged to the new agencies and currently comprises eighteen E-Rare partners. To enhance the common strategy, the chairs of IRDiRC’s Scientific Committees were invited as members of the E-Rare External Advisory Board (EAB). The role of the EAB is to provide the advice to the E-Rare Network Steering Committee of different strategic issues. To contribute to the IRDiRC major objectives including 200 new therapies for rare diseases by 2020, the JTC2016 focuses on the “Clinical research for new therapeutic uses of already existing molecules (repurposing) in rare diseases”.
Based on the analysis of research applications received in E-Rare calls and outcomes of E-Rare funded projects more than 95% of them declared the use of infrastructures (including biobanking, registries, databases, imaging, genomic analysis, molecule screening). Therefore, E-Rare decided to establish a long-term collaboration with European Research Infrastructures that cover such services.
E-Rare is also involved in ‘CORBEL’ (Coordinated Research Infrastructures Building Enduring Life-science Services) which aims to create a joint platform that will reduce redundancy and simplify project management, transforming the ability of users to deliver advanced, cross-disciplinary research in Europe.
Finally, one of the unifying elements among rare disease patient organizations (PO) and national funding agencies is the desire to drive research and its translation for better prevention, diagnosis, treatment and ultimately a cure. POs show a high interest and a strong commitment to research and a strong willingness to collaborate with researchers, including logistical and financial support. The possible contribution of POs to the funding of research projects has been clearly stated in the JTC 2016 Call Text and all application forms were adapted according to the POs needs.
Since the pharmaceutical industry has little interest, under normal market conditions, in developing and marketing medicines intended for small numbers of patients, the EU offers a range of incentives to encourage the development of orphan medicines. European Medicines Agency (EMA) is responsible for reviewing applications. The use of EMA services for the completion of orphan drug designation and protocol assistance were promoted under the JTC2016. Finally, a workshop focused on the “Interactions between EMA and Rare Disease researchers on pre-licensing activities” will be organized with contribution of EMA.
E-Rare-3 will pursue:
Achieving additional synergies between public authorities and civil society through the involvement of patients’ organizations;
Building linkages between industry and academic and clinical research by the involvement of agencies dedicated specifically to funding of public-private partnerships;
Facilitating access to knowledge and resources through collaboration with European Research Infrastructures;
Influencing the international rare diseases strategic research agenda;
Improving framework conditions under which rare disease research is being conducted (ethical issues, intellectual property rights, standardization of protocols, sampling, databases, registries);
Creating the opportunities and promoting collaboration of E-Rare funded rare diseases researchers with the best scientists and research infrastructures in the world;
Excellence in research stems from competition and collaboration among scientists.
The dissemination of knowledge and achievements obtained by the E-Rare-3 program is essential for the visibility and outreach of the whole Consortium. The plan on dissemination and exploitation of results is designed to maximize the impact of E-Rare-3 and serves three goals: i/ awareness for E-Rare-3 in order to involve more partner countries in joining funding activities for rare diseases research resulting in a substantial contribution to the overall goals of IRDiRC, ii/ increasing of knowledge on and understanding of rare diseases and, iii/ engage key stakeholders to support a sustainability scenario for rare disease research activities beyond E-Rare 3.