Despite the advances on biomedical research most of the estimated 6000 to 8000 rare diseases lack means for specific diagnosis and therapy. Small and dispersed patient populations, fragmented expertise and research resources make rare diseases a prime area for EU-level collaboration. Substantial funding from the EU Framework Programmes for Research and Innovation has had an integrating effect in the field, and three consecutive ERA-NETs have built the base for close research collaboration between Member States. European Reference Networks (ERNs) established under the Directive on Patients' Rights in Cross-Border Healthcare will bring a major structuring effect on research and care by linking thematic expert centres across the EU.
There is a need to more efficiently bring the results of rare diseases research and innovation to patients in terms of new and optimised treatment options, diagnostic tools and integrated care, making sure that patients maximally benefit from the research and investments done at the EU and Member States levels.Scope:
The overall objective is to implement a European Joint Programme (EJP) Cofund for Rare Diseases which would create a research and innovation pipeline "from bench to bedside" ensuring rapid translation of research results into clinical applications and uptake in healthcare for the benefit of patients. The initiative should follow the policies and contribute to the objectives of the International Rare Diseases Research Consortium (IRDiRC).
The specific objectives of the EJP Cofund are to improve integration, efficacy, production and social impact of research on rare diseases through the development, demonstration and promotion of sharing of research and clinical data, materials, processes, knowledge and know-how, and to implement and further develop an efficient model of financial support for research on rare diseases including basic, clinical, epidemiological, social, economic, and health service research. Reaching these objectives requires support of a wide range of activities and participants which cannot be achieved with an ERA-NET-Cofund.
The EJP Cofund should be implemented through a joint programme of activities ranging from research to coordination and networking activities, including training, demonstration and dissemination activities, to be structured along the four main components:
The research and innovation programme should encompass various aspects of rare diseases, such as development of new means for diagnosis and screening, improved annotation and interpretation of genetic variants, functional analysis of candidate variants, animal and cellular models for human conditions, natural history studies with improved, scalable and participants-centred registries, preclinical research for new therapies, development of new methods for clinical trials, clinical trials for new and/or repurposed therapies including advanced therapies, discovery and validation of robust biomarkers, basic research into pathomechanisms and molecular pathways, social, economic and healthcare oriented studies including burden of disease studies, and health services research to improve patient outcomes and healthcare systems. The calls should be implemented on the basis of the standards and good practice for calls implemented under ERA-NET Cofund actions (international peer review, Horizon 2020 evaluation criteria, proposal selection according to the ranking list etc.).
The development of the virtual platform for rare diseases information, research data, samples, tools and standards should build on the existing resources, link directly with funded research projects and establish new connections across the rare diseases community in particular with European Reference Networks (ERNs). Pilot actions involving funded research projects, ERNs, or relevant national or regional research and care institutions should be launched to ensure the usefulness of the developed tools to be followed by upscaling in a progressive manner.
The EJP Cofund for Rare Diseases will contribute to the Health Research and Innovation Cloud, one of the thematic clouds of the European Open Science Cloud.
Capacity building activities should include training and support activities focussing on areas such as research data management, product development, HTA processes, translational research and defining and sharing best practice guidelines and involve large groups of stakeholders including patient organisations.
Strategic coordination and management should encompass annual programming including gap-analysis and identification of research priorities and policy questions in demand for evidence generation, as well as monitoring of the outcome of the EJP Cofund. Appropriate considerations of the relevant ethical, legal, sex/gender and societal aspects should be included. Close linkage with IRDiRC would be ensured by integration of the IRDiRC Secretariat in the EJP Cofund.
Participation of patient organisation should be encouraged in relevant activities of the EJP Cofund.
For grants awarded under this topic for EJP Cofund, beneficiaries may provide support to third parties as described in General Annex K of the Work Programme either in form of grants or prizes. The respective options of Article 15 of the Model Grant Agreement will be applied.
Financial support provided by the participants to third parties is one of the primary aims of this action. Therefore, the 60 000 EUR threshold provided for in Article 137(1)(c) of the Financial Regulation No 966/2012 and Article 210(a) of the Rules of Application Regulation No 1268/2012, does not apply .
The Commission considers that proposals requesting a contribution from the EU of between 50 and EUR 55 million would allow these challenges to be addressed appropriately. Nonetheless, this does not preclude submission and selection of proposals requesting other amounts.Expected Impact: