Sickle Cell DiseaseSYNTHEMA (SCD)NCT06794281
Synthetic Generation of Hematological Data Over Federated Computing Frameworks: SCD Use Case
An observational study of Sickle Cell Disease, run by Hospital Universitari Vall d'Hebron Research Institute at 3 sites in 3 countries.
Trial 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… Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- Sickle Cell Disease
- What is being tested?
- Generate synthetic multimodal (clinical, omics and imaging) data for rare haematological diseases with a validated clinical result
- How many people
- 1,500 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 1 Nov 2022to 30 Nov 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- SCD patients (any genotype).
- older than 1 year old
Who cannot join
- younger than 1 year old
- post HSCT patients
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
About this study
Official title: Synthetic Generation of Hematological Data Over Federated Computing Frameworks (SYNTHEMA): SCD Use Case
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).
Read the detailed description
SYNTHEMA will develop a federated learning (FL) infrastructure, equipped with secure multiparty computation (SMPC) and differential privacy (DF) protocols, connecting clinical centres bringing standardised, interoperable multimodal datasets and computing centres from academia and SME. This framework will be utilised to train the developed algorithms and perform SMPC-based global model aggregation in a privacy-preserving fashion. The resulting data will be validated for their clinical value, statistical utility and residual privacy risks. The project will develop legal and ethical frameworks to guarantee privacy by-design in the collection and processing of health-related personal data and attain an ethics-wise algorithm co-creation. Project outcomes, including pipelines, standards and data, will be made openly available to stakeholders in the healthcare, academia and industry field, and contribute to existing rare disease registries
- Conditions
- Sickle Cell Disease
- Being tested
- Generate synthetic multimodal (clinical, omics and imaging) data for rare haematological diseases with a validated clinical result
- Medical subject headings
- Anemia, Sickle Cell
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Generate synthetic multimodal (clinical, omics and imaging) data for rare haematological diseases with a validated clinical resultOther
Also called Synthetic Data Generation
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: November 2026
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jan 2025
- Study start1 Nov 2022
- Primary completion30 Nov 2026 (estimated)
- Study completion30 Nov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sickle Cell DiseaseStudies of the same condition, open and under way.
- More trials run by Hospital Universitari Vall d'Hebron Research InstituteThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Universidad Politecnica de Madrid, Datawizard SRL, University of Southampton, Humanitas Mirasole SpA, Charite University, Berlin, Germany, Universita degli Studi di Padova, Assistance Publique - Hôpitaux de Paris, Vicomtech, GLSMED Learning Health S.A., UMC Utrecht, Intrasoft
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06794281
- Sponsor's protocol ID
- PR(AMI)205/2023
- Acronym
- SYNTHEMA (SCD)
- Status last verified
- Mar 2025
- First submitted
- 21 Jan 2025
- Last updated
- 12 Mar 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Synthetic Generation of Hematological Data Over Federated Computing Frameworks (SYNTHEMA): SCD Use Case
- ClinicalTrials.gov ID
- NCT06794281
- Acronym / sponsor ID
- SYNTHEMA (SCD) / PR(AMI)205/2023
- Conditions
- Sickle Cell Disease
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- Hospital Universitari Vall d'Hebron Research InstituteUniversity, hospital or other
- Collaborators
- Universidad Politecnica de Madrid, Datawizard SRL, University of Southampton, Humanitas Mirasole SpA, Charite University, Berlin, Germany, Universita degli Studi di Padova, Assistance Publique - Hôpitaux de Paris, Vicomtech, GLSMED Learning Health S.A., UMC Utrecht, Intrasoft
- Study start
- 1 Nov 2022 (actual)
- Primary completion
- 30 Nov 2026 (estimated)
- Study completion
- 30 Nov 2026 (estimated)
- First posted
- 27 Jan 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Detailed description
SYNTHEMA will develop a federated learning (FL) infrastructure, equipped with secure multiparty computation (SMPC) and differential privacy (DF) protocols, connecting clinical centres bringing standardised, interoperable multimodal datasets and computing centres from academia and SME. This framework will be utilised to train the developed algorithms and perform SMPC-based global model aggregation in a privacy-preserving fashion. The resulting data will be validated for their clinical value, statistical utility and residual privacy risks. The project will develop legal and ethical frameworks to guarantee privacy by-design in the collection and processing of health-related personal data and attain an ethics-wise algorithm co-creation. Project outcomes, including pipelines, standards and data, will be made openly available to stakeholders in the healthcare, academia and industry field, and contribute to existing rare disease registries
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- SCD patients (any genotype).
- older than 1 year old
Key exclusion criteria (2 listed)
- younger than 1 year old
- post HSCT patients
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Generate synthetic multimodal (clinical, omics and imaging) data for rare haematological diseases with a validated clinical resultAlso: Synthetic Data GenerationO1. 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. | Other | – |
Primary outcome
Generate synthetic multimodal (clinical, omics and imaging) data for rare haematological diseases with a validated clinical result
Time frame: 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).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Mar 2025.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sickle Cell Disease, run by Hospital Universitari Vall d'Hebron Research Institute at 3 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 12 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Italy, Netherlands, Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Generate synthetic multimodal (clinical, omics and imaging) data for rare haematological diseases with a validated clinical result (time frame: November 2026). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Mar 2025.