ExpectedOutcome:
This topic aims at supporting activities that are enabling or contributing to one or several expected impacts of destination 3 “Tackling diseases and reducing disease burden”. To that end, proposals under this topic should aim for delivering results that are directed, tailored towards and contributing to some of the following expected outcomes:
Despite the considerable amount of knowledge that has been accumulated and the new orphan medicines developed in recent years, the number of available therapies for rare diseases remains low, as fewer than 6% of rare diseases have an approved treatment option.
The joint evaluation[1]of the regulations on orphan medicinal products and paediatric medicines concluded that those regulations have boosted the development for new therapies for rare diseases but have not yet adequately managed to direct research and innovation in areas of greatest unmet medical need. Actually, there is an urgent unmet medical need for the development of therapies for rare diseases, where there is still no approved therapeutic option available.
Therefore, proposals should aim to develop therapies for rare diseases with no approved therapeutic option. Proposals should focus on group(s) of rare diseases with commonalities, such as shared biological features, possibly within the same and/or across different medical areas within the rare diseases landscape[2]. Thus, proposals should not address a single disease only (for example with an Orphacode representing a single disease).
The therapies to be developed may include a broad family of therapeutic interventions such as small molecule(s), advanced therapy medicinal products, repurposing of existing medicinal products, including non-pharmacological interventions and/or their combinations, as relevant. Sex and gender aspects should be considered, where relevant. To ensure that the needs of people living with a rare disease are adequately addressed, the involvement of patient representatives in all phases of the research and development process is strongly encouraged. Rare infectious diseases and rare cancers are excluded from this topic and will not be considered.
The topic will support proposals covering several different stages in the continuum of the innovation pathway (i.e. translational, preclinical, clinical research, validation in the clinical and/or real-world setting etc.), as relevant. SME(s) participation is encouraged with the aim to strengthen the scientific and technological basis of SME(s) and valorise their innovations for the benefit of people living with a rare disease.
The proposals should address most of the following research activities:
Proposals should involve group(s) of rare diseases (i.e. a rare disease being individually defined in the European Union as affecting not more than five in 10.000 persons). Proposals that plan to run clinical trials should demonstrate that they have already taken into account scientific advice[4] or protocol assistance from EMA. In particular, proposals planning the clinical development of orphan medicinal products should demonstrate that they have been granted approval for an orphan designation at the latest on the date of the call deadline.
Proposals should adhere to the FAIR[5] data principles and take stock, wherever relevant, of data standards, harmonisation guidelines and good practices for data sharing/access developed by existing European health research infrastructures (i.e. ESFRI infrastructures[6]). Proposals should take stock, where relevant, of the FAIR guidance, of good practices for analytical methods and preclinical models and of good exploitation strategies for the translation of research results into high impact interventions, developed by the European Joint Programme on Rare Diseases[7] (EJP RD) and other relevant EU-funded projects. Whenever the proposed data sources or fields of application include genomics, the proposals should take into account, where relevant, the data standards, and legal, ethical and technical interoperability requirements and guidelines agreed within the 1+ Million Genomes initiative[8]. Data-intensive proposals, particularly those using data from patient registries, could consider the involvement of the European Commission's Joint Research Centre (JRC) and take stock of the tools and services provided by the European Platform on Rare Disease Registration (EU RD Platform), including the adoption, where relevant, of the European standards such as the "set of common data elements”[9]. In addition, synergies should be sought with the European Reference Networks[10], where relevant.
Projects funded under this topic will contribute towards the goals of the International Rare Diseases Research Consortium (IRDiRC) that supports the development of 1000 new therapies for rare diseases by 2027 and may take stock of the IRDiRC Orphan Drug Development Guidebook[11], where relevant.
Cross-cutting Priorities:Artificial Intelligence
Digital Agenda
EOSC and FAIR data
International Cooperation
Social sciences and humanities
[1]https://ec.europa.eu/health/sites/health/files/files/paediatrics/docs/orphan-regulation_eval_swd_2020-163_part-3.pdf
[2]Medical areas such as: neurology, immunology, dermatology, endocrinology-metabolism etc. - see EMA therapeutic areas: https://www.ema.europa.eu/en/human-regulatory/research-development/prime-priority-medicines
[3]Template for providing essential information in proposals involving clinical studies https://ec.europa.eu/research/participants/data/ref/h2020/other/legal/templ/h2020_tmpl-clinical-studies_2018-2020_en.pdf
[4]https://www.ema.europa.eu/en/human-regulatory/research-development/scientific-advice-protocol-assistance
[5]FAIR data are data, which meet principles of findability, accessibility, interoperability, and reusability.
[6]2018 Roadmap of the European Strategy Forum on Research Infrastructures (ESFRI) with list of ESFRI research infrastructures (pp 15-17), https://ec.europa.eu/info/sites/info/files/research_and_innovation/esfri-roadmap-2018.pdf.
[7]https://www.ejprarediseases.org/
[8]https://digital-strategy.ec.europa.eu/en/policies/1-million-genomes
[9]https://eu-rd-platform.jrc.ec.europa.eu/set-of-common-data-elements_en
[10]https://ec.europa.eu/health/ern_en
[11]https://irdirc.org/orphan-drug-development-guidebook-materials/