Tackling high-burden for patients and under-researched medical conditions

Expected Outcome

This topic aims at supporting activities that are enabling or contributing to one or several expected impacts of destination “Tackling diseases and reducing disease burden”. To that end, proposals under this topic should aim to deliver results that are directed, tailored towards and contributing to most of the following expected outcomes:

• The scientific and clinical communities make effective use of state-of-the-art information, data, technologies, tools and best practices to better understand the condition, underpinning the development of diagnostics, therapeutics and/or preventive strategies.
• The scientific and clinical community exchange data, knowledge and best practices, thereby strengthening their collaboration and building knowledge and care networks in Europe and beyond.
• The scientific and clinical community make wide use of newly established and where relevant open access databases and/or integrate them with existing infrastructures for storage and sharing of collected data according to FAIR[1] principles, thereby encouraging further use of the data.
• Policymakers and funders are informed of the research advances made and consider further support in light of the sustainability of the studies.
• Patients and caregivers are constructively engaged with the research, which also caters for their needs.
• Health professionals have access to and use improved clinical guidelines on diagnosis and/or treatment of the condition.

Scope

A number of medical conditions fail to be recognised and/or be correctly diagnosed in a significant proportion of patients. As a consequence, they are inadequately treated and often can become a chronic and high burden for the patient. These medical conditions[2], including:

• myalgic encephalomyelitis/chronic fatigue syndrome,
• autism,
• gynaecological diseases,
• low back pain,
• other[3],

may be insufficiently researched even though they manifest with high prevalence.

Applicants should explicitly state in their proposal which of the above medical conditions is targeted and the proposed work should address only this specific medical condition. Please note that the following medical conditions are not in the scope of this topic: rare diseases, including rare cancers, and under-research medical conditions already addressed by projects funded under topic HORIZON-HLTH-2024-DISEASE-03-14-two-stage[4].

Research actions under this topic should include all the following activities, ensuring multidisciplinary approaches and a broad representation of stakeholders in the consortia:

• Proposals should address the gaps in robust, scientific evidence for improved policies and practices to tackle such a medical condition and aim at identifying the pathophysiological mechanism(s) (e.g. genetic, cellular and molecular) and potential risk factors (e.g. psychological and environmental) of the medical condition through basic, pre-clinical and/or clinical research. These efforts should underpin the development of diagnostics, therapeutics, and/or preventive strategies for the condition.
• Proposals should demonstrate that the medical condition under study is insufficiently understood, inaccurately diagnosed or inadequately treated in a significant proportion of patients, and as such represent a high burden for patients and society. This could be through referencing key literature.
• Sex and gender-related aspects, age, ethnicity, socio-economic, lifestyle and behavioural factors should be taken into consideration. In addition, the emotional and societal long-term effects of these chronic disorders for the affected individuals should be addressed.
• Where applicable, the development of biomarkers and other technologies for diagnosis, monitoring in patients, and stratification of patient groups should be considered.
• Where applicable, the development of clinically relevant, (non-)human model systems that can complement clinical investigations should be considered.
• Exploitation of existing data, biobanks, registries and cohorts is expected, together with the generation of new (e.g. genomics, epigenomics, transcriptomics, proteomics) data.
• To enable sharing of samples, quality data and advanced analytical tools, it is encouraged to make use of existing infrastructures developed at the European[5] or national level.
• Inclusion of patients or patient organisations in the research is strongly encouraged, to ensure that their views are considered.
• Participation of startups and small and medium-sized enterprises (SMEs) is strongly encouraged.

This topic requires the effective contribution of social sciences and humanities (SSH) disciplines and the involvement of SSH experts, institutions as well as the inclusion of relevant SSH expertise, in order to produce meaningful and significant effects enhancing the societal impact of the related research activities.

Applicants should provide details of their clinical studies[6] in the dedicated annex using the template provided in the submission system. As proposals under this topic are expected to include clinical studies, the use of the template is strongly encouraged.

[1] See definition of FAIR data in the introduction to this work programme part.

[2] High-burden medical conditions could for instance include those that are either life-threatening or lead to chronic invalidity or a severely reduced quality of life.

[3] The European Commission commissioned an independent scoping study to help identify high-burden under-researched medical conditions and define the type of research and/or research priorities to better address the different needs of patients with these conditions. The study delivered a discussion paper with a non-exhaustive list of conditions/groups of disorders identified as being high-burden and under-researched. This document is available at https://op.europa.eu/en/publication-detail/-/publication/eae32303-96e3-11ed-b508-01aa75ed71a1/language-en

[4] https://cordis.europa.eu/search?q=programme%2Fcode%3D'HORIZON-HLTH-2024-DISEASE-03-14-two-stage'

[5] A variety of infrastructures have been developed at European level and include, for example, the BBMRI-ERIC (https://www.bbmri-eric.eu) research infrastructure for biobanking, while others are being developed like the federated European infrastructure for genomics data.

[6] Please note that the definition of clinical studies (see introduction to this work programme part) is broad and it is recommended that you review it thoroughly before submitting your application.