Periodic Reporting for period 5 - EJP RD (European Joint Programme on Rare Diseases)
Berichtszeitraum: 2023-01-01 bis 2023-12-31
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 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.
Since the start of 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 completed five Joint Transnational Calls focusing on acceleration of diagnosis and/or exploration of disease progression and mechanisms of rare diseases (JTC2019), effective therapies for rare diseases (JTC2020), social sciences and humanities (JTC2021), development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases (JTC2022) and Natural History Studies addressing unmet needs in Rare Diseases (JTC2022). 77 multinational projects were funded for € 104.7 million, including € 9.1 million of EC contribution. Additional funding activities resulted in financing of: (1) 3 RD Research Challenges projects, focusing on public-private collaboration to develop therapeutic solutions for patients; (2) 69 networking events to support knowledge sharing in the rare disease community; (3) 3 demonstration and 2 innovation projects to validate new innovative methodologies for RD clinical trials; (4) 77 training (short-term fellowships) for young clinicians as well as 42 transversal workshops for ERNs.
The building blocks of the Virtual Platform have been developed many of which are assets exploitable by the scientific research communities. The metadata model linking resources has been validated and extended with the latest standards, the prioritised RD resources have been made ready for linkage, and 22 of them are now onboarded on the Virtual Platform. The Care-SM data model linking records inside the resources is now optimised and developments to consider consent and reuse conditions has started. Tools to query resources and discover data are deployed. Additionally, more than 120 biological (bioinformatic) pathways have been created and some are exploited through bioinformatic networks using identified multiomics data- to accelerate the diagnosis of rare diseases and identify new durg targets. The first version of the Virtual Platform has been launched and is supplemented with incremental functionnalities (sub-versions releases) documented on the reference implementation portal that enables its exploitation (https://vp.ejprarediseases.org/).
EJP RD training activities have been delivered to nearly 1500 people: researchers, clinical staff and patients including from EU 13 countries. In addition, 3 EJP RD online RD education course are available online and attracted more than 8000 trainees from 158 countries all over the world.
The EJP RD mentoring support service supported 28 research projects for translational support. Innovation Management Toolbox and Clinical Trial Toolbox have been developed and are available online to provide support and guidance to rare diseases researchers. The EJP RD Helpdesk has also been developed.
The EJP RD completed five Joint Transnational Calls focusing on acceleration of diagnosis and/or exploration of disease progression and mechanisms of rare diseases (JTC2019), effective therapies for rare diseases (JTC2020), social sciences and humanities (JTC2021), development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases (JTC2022) and Natural History Studies addressing unmet needs in Rare Diseases (JTC2022). 77 multinational projects were funded for € 104.7 million, including € 9.1 million of EC contribution. Additional funding activities resulted in financing of: (1) 3 RD Research Challenges projects, focusing on public-private collaboration to develop therapeutic solutions for patients; (2) 69 networking events to support knowledge sharing in the rare disease community; (3) 3 demonstration and 2 innovation projects to validate new innovative methodologies for RD clinical trials; (4) 77 training (short-term fellowships) for young clinicians as well as 42 transversal workshops for ERNs.
The building blocks of the Virtual Platform have been developed many of which are assets exploitable by the scientific research communities. The metadata model linking resources has been validated and extended with the latest standards, the prioritised RD resources have been made ready for linkage, and 22 of them are now onboarded on the Virtual Platform. The Care-SM data model linking records inside the resources is now optimised and developments to consider consent and reuse conditions has started. Tools to query resources and discover data are deployed. Additionally, more than 120 biological (bioinformatic) pathways have been created and some are exploited through bioinformatic networks using identified multiomics data- to accelerate the diagnosis of rare diseases and identify new durg targets. The first version of the Virtual Platform has been launched and is supplemented with incremental functionnalities (sub-versions releases) documented on the reference implementation portal that enables its exploitation (https://vp.ejprarediseases.org/).
EJP RD training activities have been delivered to nearly 1500 people: researchers, clinical staff and patients including from EU 13 countries. In addition, 3 EJP RD online RD education course are available online and attracted more than 8000 trainees from 158 countries all over the world.
The EJP RD mentoring support service supported 28 research projects for translational support. Innovation Management Toolbox and Clinical Trial Toolbox have been developed and are available online to provide support and guidance to rare diseases researchers. 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 year-by-year pathway to impact progress of the EJP RD can be observed here: https://www.ejprarediseases.org/ejp-rd-impact/