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ERA-NET rare disease research implementing IRDiRC objectives

Periodic Reporting for period 2 - E-Rare-3 (ERA-NET rare disease research implementing IRDiRC objectives)

Reporting period: 2015-12-01 to 2020-11-30

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, and beyond.
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 had the objectives to extend and strengthen the transnational cooperation by building on the experience and results of the previous E-Rare programmes. Guidelines and policies of the International Rare Diseases Research Consortium (IRDiRC) were implemented in the four Joint Transnational Calls (JTCs) of which the first was cofunded by the European Commission (EC). Collaboration with IRDiRC representatives, patient advocacy organisations and European Research Infrastructures were intensified. The E-Rare consortium is integrated and expanded in the European Joint Programme on Rare diseases (2019-2023).
E-Rare pursued its funding activities and besides the co-funded call launched 3 additional JTCs without the contribution of the EC.
The first Co-funded call 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 including 23 agencies participated and 19.8 Mio € was committed. 19 consortia with a foreseen total budget of about 19.2 Mio € including 2.7 Mio € of EC contribution, were selected for funding.
The second call (JTC2016) focused on Clinical research for new therapeutic uses of already existing molecules (repurposing) in rare diseases. 17 countries participated in this call with a total budget estimated at 17 Mio €. In addition, the National Center for Advancing Translational Sciences (USA) expressed its interest and joined for the first time an action taken by E-Rare consortium since the creation of IRDiRC. 8 consortia were funded for an amount of 11 Mio €.
The third call (JTC2017) focused on the pre-clinical development of therapeutic approaches in suitable existing animal or cell models. 17 countries participated including 20 funding agencies with a commitment of 15.5 Mio €. 11 consortia were funded at an amount of 11 Mio €.
The fourth call (JTC2018) focused on hypothesis-driven use of multi-omic integrated approaches for discovery of disease causes and/or on functional validation in the context of rare diseases. 18 countries participated including 22 funding agencies with a commitment of 18.5 Mio €. 13 consortia were funded at an amount of 17 Mio €.
The funded projects under E-Rare-3 cover a wide range of rare diseases in all medical domains while addressing different types of studies such as diagnostics, therapy, biomarkers, natural history, or gene discovery.

To monitor the results of the funded projects, an on-line monitoring tool was put in place and updated results were collected yearly. E-Rare organized Mid-Term meetings that gathered coordinators and partners of funded projects. E-Rare Scientific Evaluation Committee members of the specific JTC were also invited to these meetings with other relevant stakeholders to chair the sessions, interact with researchers and prepare suitable feedback reports for all projects.
E-Rare international dimension was directly translated into close collaboration with IRDiRC and other relevant European and international initiatives. The collaboration with IRDiRC was strengthened through a series of actions. Among them was the renewal of the “E-Rare Group of funders” commitment to participate in the Consortium Assembly of IRDiRC. This group, established in E-Rare-2 has been enlarged to the new agencies and comprised eighteen partners of E-Rare-3. To contribute to the IRDiRC major objectives including 200 new therapies for rare diseases by 2020, the JTC2016 focused 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. Therefore, E-Rare decided to establish a long-term collaboration with European Research Infrastructures and other European initiatives that cover such services. A specific page on the E-Rare website was dedicated to the services of BBMRI, EATRIS, ECRIN, ELIXIR, EMA, EU-Openscreen, Infrafrontier, INSTRUCT and RD-Connect.
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. A funding model for collaboration with patient organizations was developed. 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” was organized with contribution of EMA in 2016.
E-Rare-3 has achieved the following results beyond the state of the art:
Achieving additional synergies between public authorities and civil society through the involvement of patients’ organizations;
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 Europe and beyond;

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 was designed to maximize the impact of E-Rare-3 and served 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/ increase 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.
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