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European Joint Programme on Rare Diseases

Periodic Reporting for period 1 - EJP RD (European Joint Programme on Rare Diseases)

Reporting period: 2019-01-01 to 2019-12-31

Rare diseases (RD) are a prime example of a research area that can strongly profit from coordination on a European and international scale. RD research should be improved to overcome fragmentation, leading to efficacious use of data and resources, faster scientific progress and competitiveness, and most importantly to decrease unnecessary hardship and prolonged suffering of RD patients.

In the specific context of the massive generation, need for reuse and efficient interpretation of data, introduction of omics into care practice and the structuration of RD care centers in European Reference Networks, it appears crucial and timely to maximize the potential of already funded tools and programmes by supporting them further, scaling up, linking, and adapting them to the needs of end-users through implementation tests in real settings. Such a concerted effort is necessary to develop a sustainable ecosystem allowing a virtuous circle between RD care, research and medical innovation. To achieve this goal, the European Joint Programme on Rare Diseases (EJP RD) has two major objectives:
- To improve the integration, the efficacy, the production and the social impact of research on RD through the development, demonstration and promotion of Europe/world-wide sharing of research and clinical data, materials, processes, knowledge and know-how
- To implement and further develop an efficient model of financial support for all types of research on RD (fundamental, clinical, epidemiological, social, economic, health service) coupled with accelerated exploitation of research results for benefit of patients.
"In 2019, the EJP RD put in place a governance that allows the strategy of the EJP RD to be aligned with the national strategies of all the 35 countries involved, that of the European Commission and other major players such as industry. In addition, collaboration with the 24 European Reference Networks (ERNs) has been successfully strengthened and their commitment to the EJP RD confirmed.

The EJP RD launched its first Joint Transnational Call focusing on acceleration of diagnosis and/or exploration of disease progression and mechanisms of rare diseases. 22 multinational projects have been funded for € 30 million, including € 6 million of EC contribution. In addition, four other calls for projects were launched: (1) the RD Research Challenges, focusing on public-private collaboration to develop therapeutic solutions for patients; (2) a call that supports networking and knowledge sharing in the rare disease community; (3) an ""internal"" call for projects open to all institutions (and their linked third parties) involved in the EJP RD which aims to validate new innovative methodologies for RD clinical trials; (4) a call supporting training (short-term fellowships) for young clinicians as well as transversal workshops for ERNs.

The first step in the development of the Virtual Platform has been completed: the metadata model has been validated and the first wave of pre-identified resources has been aligned. In addition, 41 new metabolic pathways have been identified as part of the WP13 which aims to accelerate the diagnosis of yet undiagnosed diseases.

For EJP RD training activities, all 6 courses planned for the first year have been delivered and nearly 200 people have been trained: researchers, clinical staff and patients including from EU 13 countries.

Finally, two other EJP RD services were set up: support for multinational clinical trials and the innovation management service. Those services are implemented respectively with the European infrastructures ECRIN and EATRIS, and supported 3 requests for support for clinical trials and 4 research projects for translational support and search for sponsors. The EJP RD Helpdesk has also been developed."
Through all its activities, the EJP RD will contribute to improvement of lives of rare diseases patients by providing tools and expertise necessary to improve the healthcare system’s capacity to take up research, optimised treatment options and diagnostic tools for these diseases.
The first year of EJP RD work resulted in following short-term impacts:
1.Overall impact: Improved alignment of national/regional activities and policies in RD
The establishment of the EJP RD Policy Board and its inclusion in the EJP RD strategy discussions triggered several actions at national level: (i) increased awareness of the RD research ecosystem, (ii) new possibilities for negotiation of financing of RD research in countries not yet involved in funding activities, (iii) initiation and/or empowerment of National Mirror Groups bringing all RD stakeholders.
2.Specific impact: Decrease fragmentation of rare diseases expertise and research resources
•One of the most important short-term impacts achieved by the EJP RD is the establishment of strong collaboration with the ERNs. Their inclusion in the EJP RD allows on the progressive empowerment of their research capacities and close alignment of the EJP RD activities with the requirements of the users. Mapping of ERNs strengths, gaps and needs enabled the implementation of dedicated support and research. Thus, by bringing all stakeholders and available resources under one umbrella EJP RD decreases fragmentation of expertise and enhances its power at EU level.
•The creation of EJP RD Virtual Platform and putting resources together at work in order to make them discoverable and queriable improved directly each of the resources by standardizing their data and making them more easily usable and by increasing their respective quality for the benefit of RD research community.
• The training activities were expanded and adapted to the needs of the EU13 countries, thereby offering additional opportunities to train new experts and improve the training programmes by making them more inclusive. Dedicated widening measures applied in the Joint Transnational Calls allowed inclusion of research teams from underrepresented countries in high quality research consortia.
3.Specific impact: Reinforce the EU’s role as a global leader for rare diseases
•Recognized as major EU player in the field of RD, EJP RD was competitively selected as a Driver Project for the Global Alliance for Genomic & Health (GA4GH), which is the forefront international standards creation organisation for the genotype-phenotype data domain. EJP RD is not only contributing to the establishment of global standards for responsible genomic data sharing, but also is driving new developments in the field.
•The inclusion of representatives of IMI, EUCOPE and EFPIA in the EJP RD Policy Board enhanced the interest and support from industry to EJP RD actions. It was agreed that the outcomes of the EJP RD Rare Diseases Challenges schemes will serve to better align the support among different stakeholders and target public-private collaborations exploiting the potential of EU academia, SMEs and industry.
4.Specific impact: Follow the policies and contribute to the objectives of the International Rare Diseases Research Consortium (IRDiRC)
•Within its first year the EJP RD fully aligned its actions with strategic recommendations and roadmap of IRDiRC. On one hand, EJP RD included outcomes of IRDiRC Task Forces into its services and support, thereby ensuring their visibility and sustainability. On the other hand, IRDiRC profits from the expertise contained in the EJP RD and especially access to the ERNs, for its new Task Forces.