TNFAIP3 (A20) gene link to immune-mediated TTP
Official title: Association of the TNFAIP3 Genomic Locus With Immune-mediated TTP
Run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico · NCT06928233 · Data updated 2026-11-12
We will test whether genetic differences near the TNFAIP3 (A20) gene are linked to immune-mediated TTP in people of Italian ancestry and whether lower A20 levels explain that link.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 12 Years and up |
| Sex | All |
| Enrollment | 400 (estimated) |
| Sponsor | Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico Academic / other |
| Locations | 1 site (Milan) |
| Status | Recruiting |
| Started | April 7, 2025 |
| Main results expected | April 2026 |
| Study ends | April 2026 |
| Registry record updated | March 27, 2026 |
| Trial ID | NCT06928233 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Adolescents and adults (aged 12 and older) of Caucasian Italian descent with a confirmed diagnosis of immune-mediated TTP who can provide written informed consent are ideal candidates.
✕Probably not a fit
Patients who are younger than 12, not of Caucasian Italian origin, have non–immune causes of TTP, or are unable/unwilling to give consent are not eligible and would not receive potential benefit from this protocol.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This research uses a case-control design to compare TNFAIP3 genotypes and A20 expression between patients with immune-mediated TTP and matched healthy Italian controls. Blood samples will be collected for genetic testing and measurement of TNFAIP3 (A20) expression. A prospective cohort component will follow patients to record clinical outcomes, including relapse, and relate those outcomes to genotype and expression data. Enrollment is restricted to Caucasian participants of Italian origin aged 12 years and older and is centralized at the Milan site.
Why it matters
Potential benefit: If successful, the findings could identify genetic markers associated with relapse risk and highlight A20 as a potential target for future therapies or risk stratification.
How similar studies have gone: Variants in TNFAIP3 have been implicated in several autoimmune diseases, but direct genetic and expression links to immune-mediated TTP are novel and not yet well established.
Who can join: the full rules
Show full inclusion / exclusion criteria
Patients: Inclusion Criteria: * Diagnosis of iTTP * Above 12 years of age * Caucasian, Italian origin * Written informed consent to participate in the study Exclusion Criteria: * Patients who do not meet the above-listed criteria will be excluded from participation in the study. Controls will be healthy Italian volunteers of Caucasian ethnicity, with no history of thrombotic thrombocytopenic purpura, frequency-matched to cases by age and sex, and who have provided written informed consent to participate in the study.
Where it's running
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Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Milan, Italy Recruiting
Study contacts
- Principal investigator: Ilaria Mancini, PhD — Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
- Study coordinator: Ilaria Mancini, PhD
- Email: ilaria.mancini@guest.unimi.it
- Phone: +390255035414
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.