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

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[[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.]] may be insufficiently researched even though they manifest with high prevalence[[Examples of medical conditions include chronic Lyme disease, Myalgic encephalomyelitis/ chronic fatigue syndrome and low back pain.]]^, [[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/format-PDF/source-278963958]].

This topic excludes rare diseases.

Proposals should address all of the following aspects:

• Proposals should address the gaps in robust, scientific evidence for improved policies and practices to tackle such medical condition(s), 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(s) 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(s) under study is/are 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 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[[ A variety of infrastructures have been developed at European level and include, for example, the BBMRI-ERIC research infrastructure for biobanking, while others are being developed like the ‘Federated European infrastructure for genomics data’.]] or national level.
• Inclusion of patients or patient organisations in the research is strongly encouraged, to ensure that their views are considered.
• SME participation 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 invited to the second stage and envisaging to include clinical studies should provide details of their clinical studies in the dedicated annex using the template provided in the submission system. See definition of clinical studies in the introduction to this work programme part.