Synthetic Generation of Hematological Data Over Federated Computing Frameworks: SCD Use Case

Condition(s) studied

Investigational drug(s) / intervention(s)

Generate synthetic multimodal (clinical, omics and imaging) data for rare haematological diseases with a validated clinical result: O1. Provide novel methods and capabilities to generate synthetic multimodal clinical, omics and imaging data for SCD with a validated clinical result. O2. Develop de-identification, minimisation and anonymisation pipelines, including automatic assessment of privacy levels, at the service of clinical research and care. O3. Consolidate and scale-up the use of FL applications, SMPC and DP solutions for privacy-preserving local algorithm training and global model aggregation. O4. Ensure ethical and GDPR compliance in anonymised and synthetic data-driven research in RHDs. O5. Ensure wide uptake and scalability of the developed methodologies and tools through effective stakeholder engagement, dissemination and open science practices.

Study summary

Haematological diseases (HDs) are a large group of disorders resulting from quantitative or qualitative abnormalities of blood cells, lymphoid organs and coagulation factors. Despite most of them (\~74%) are rare, the overall number of HD affected patients worldwide is important, placing a considerable economic burden on healthcare systems and societies. Despite the existence of several collaborative research groups at national and EU level, current clinical approaches are often ineffective, particularly for rarest conditions, due to the relatively low number of patients per disease and the high number of unconnected clinical entities.

SYNTHEMA aims to establish a cross-border data hub where to develop and validate innovative AI-based techniques for clinical data anonymisation and synthetic data generation (SDG), to tackle the scarcity and fragmentation of data and widen the basis for GDPR-compliant research in rare hematological disorders (RHD). The project will focus on one representative RHD use case: sickle-cell disease (SCD).

Eligibility

Primary outcome measure(s)

• Generate synthetic multimodal (clinical, omics and imaging) data for rare haematological diseases with a validated clinical result — November 2026
  For Sickle Cell Disease, validation scenarios will test the reliability of synthetic data in regards to genomic variants/disease phenotypes association and MRI feature-based prediction of brain vascular events (SCD).

Trial sites (3)

Other trials for the same condition