Gene hunt: can DNA explain a rare blood disorder?
NCT ID NCT06928233
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at whether a specific gene, TNFAIP3, is linked to immune-mediated thrombotic thrombocytopenic purpura (iTTP), a rare blood clotting disorder. Researchers will compare genetic data from 400 people with iTTP and healthy volunteers to see if gene variations affect disease risk and relapse. The goal is to better understand the disease, not to test a new treatment.
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Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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About 400 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Apr 2025
- Expected to finish
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Apr 2026
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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12 years and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
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Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
RECRUITINGMilan, 20122, Italy
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