ClinicalTrials.gov record NCT06928233

Association of TNFAIP3 With Immune-mediated TTP

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Association of the TNFAIP3 Genomic Locus With Immune-mediated TTP

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
Age12 years old and older
SexAll
LocationItaly
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This study compares people with acquired immune TTP and healthy donors using blood samples to study the TNFAIP3 gene (A20). It looks for differences in TNFAIP3 variants and A20 expression, and follows patients to assess clinical outcomes such as relapse and episode severity. Participation involves providing additional blood for experimental analyses and clinical follow-up for patients.

What it is studying. Whether genetic differences at the TNFAIP3 locus are associated with immune-mediated TTP, whether any association is linked to lower A20 (TNFAIP3) expression, and whether TNFAIP3 variation is associated with clinical outcomes such as relapse, severity of acute episodes, and age at onset.

What the researchers hope to learn. To measure allele frequencies of TNFAIP3 variants in cases versus controls; to compare TNFAIP3 (A20) mRNA levels between groups; to test genotype–expression associations; and to evaluate links between TNFAIP3/A20 variation and iTTP relapse, episode severity, and age at onset.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

This study aims to investigate whether genetic variation in the TNFAIP3 locus is associated with immune-mediated thrombotic thrombocytopenic purpura (iTTP), and whether such association is mediated by decreased expression of A20 (TNFAIP3). The study includes a case-control design to assess genotype-expression association and a cohort study to evaluate clinical outcomes such as disease relapse.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Procedure
  • blood sampling

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Patients:
  • 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.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants give written consent and provide a blood sample. For iTTP patients, an extra sample is taken during routine blood collection; for healthy donors, an extra sample is taken during standard donation. Samples will be used for experimental analyses comparing TNFAIP3 (A20) genetic variants and mRNA expression between cases and controls. iTTP patients may also be followed over time to collect clinical outcome information such as disease relapse; the registry does not specify visit schedule or additional tests.

How the study is structured. Interventional study with two parallel groups (people with iTTP and healthy donors). Participants provide blood samples during routine collection; samples are used for genetic and gene-expression analyses. The design includes a case-control comparison (cases versus healthy controls) and a cohort component to track clinical outcomes in iTTP patients. The study is non-randomized and not masked.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on thrombotic thrombocytopenic purpura

Clinical trials18 trials listed for thrombotic thrombocytopenic purpuraEvery trial the registry lists for thrombotic thrombocytopenic purpura, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in thrombotic thrombocytopenic purpura researchLatest monthly update: September 2026. Includes: Caplacizumab use. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Apr 7, 2025
Primary completion
April 2026 (estimated)
Study completion
April 2026 (estimated)
Target enrollment
400 participants (estimated)
Last updated on registry
Mar 27, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Principal investigator
Ilaria Mancini, PhD
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

cohort study
A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
relapse
A condition that improved with treatment and has since returned or worsened.
Written informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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