Schematic representation of the project’s work packages, illustrating their interconnections and the partners involved in each group. The diagram shows how the different teams collaborate and share responsibilities across the project’s structure.

Paediatric inflammatory bowel disease (pIBD) is a chronic condition affecting the gastrointestinal tract in children, causing persistent inflammation and significant impact on quality of life.

BIOKID-PGx aims to revolutionise paediatric inflammatory bowel disease (pIBD) treatment by pioneering personalised medicine through an innovative, multi-omics-based risk score predicting anti-TNF therapy failure. This ambitious project utilises multi-omics data and cutting-edge machine learning to identify and validate key biomarkers associated with anti-TNF drug response.

Initially, existing omics data from consortium partners will be integrated to identify and validate biomarkers of response to anti-TNF drugs. We expect that integrating multi-omics data into a unified analysis will yield more robust markers. These will then be validated in new patient cohorts, using partners’ existing collections and a collaboration with the PORTO IBD biobank.

Following validation, a machine learning-generated risk score will be developed using a minimal set of omics biomarkers, personalised by sex, IBD type, and specific anti-TNF treatment. This risk score will be prospectively validated in a cohort of children with IBD recruited by the PORTOIBD biobank. We expect >90% accuracy in predicting anti-TNF treatment failure after one year.

Guidelines for using and interpreting this risk score will be created for rapid and safe clinical implementation. Patient involvement is central through EFCCA. A digital platform for the risk score will be developed, and a clinical trial protocol designed, fostering collaboration between patients, clinicians, and industry. Key performance indicators include software development,clinical trial protocol establishment, and patient and industry stakeholder meetings.

Our collaborative ecosystem ensures the project’s outcomes are relevant, effective, and translatable to real-world clinical settings, ultimately improving the lives of children with IBD.