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

NCT06794281 | Active Not Recruiting DMC

• 1 other identifier: PR(AMI)205/2023
• Study Type: observational
• Target: 1,500
• Locations: 3 countries
• Sites: 3

Brief 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).

Conditions

Sickle Cell Disease

Outcome Measures

Primary Outcomes (1)

• Generate synthetic multimodal (clinical, omics and imaging) data for rare haematological diseases with a validated clinical result

  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).

  November 2026

Interventions

Generate synthetic multimodal (clinical, omics and imaging) data for rare haematological diseases with a validated clinical result OTHER

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.

Also known as: Synthetic Data Generation

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

SYNTHEMA will retrospectively collect existing RHD clinical, omics and imaging datasets from all the health data centres of its consortium (VHIR, UMCU, GLSMED LH, UNIPD) for the target SCD clinical use cases.

You may qualify if:

• SCD patients (any genotype).
• older than 1 year old

You may not qualify if:

• younger than 1 year old
• post HSCT patients

Sponsors & Collaborators

• Hospital Universitari Vall d'Hebron Research Institute: lead
• Universidad Politecnica de Madrid: collaborator
• Datawizard SRL: collaborator
• University of Southampton: collaborator
• Humanitas Mirasole SpA: collaborator
• Charite University, Berlin, Germany: collaborator
• Universita degli Studi di Padova: collaborator
• Assistance Publique - Hôpitaux de Paris: collaborator
• Vicomtech: collaborator
• GLSMED Learning Health S.A.: collaborator
• UMC Utrecht: collaborator
• Intrasoft: collaborator

Study Sites (3)

Azienda Ospedale Università Padova

Padua, Italy

Location

UMC Utrecht

Utrecht, Netherlands

Location

Vall Hebron Institut de Recerca

Barcelona, Barcelona, 08035, Spain

Location

Related Links

• Related Info

MeSH Terms

Conditions

Anemia, Sickle Cell

Interventions

X-Rays

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Electromagnetic Radiation; Electromagnetic Phenomena; Magnetic Phenomena; Physical Phenomena; Radiation; Radiation, Ionizing

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 21, 2025
• First Posted: January 27, 2025
• Study Start: November 1, 2022
• Primary Completion (Estimated): November 30, 2026
• Study Completion (Estimated): November 30, 2026
• Last Updated: March 12, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1); ES (1); NL (1)