blood sampling: Blood sampling for experimental analyses.
Study summary
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.
Eligibility
Sex
ALL
Min age
12 Years
Max age
—
Healthy volunteers
Accepted
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.
Primary outcome measure(s)
Allele frequency of TNFAIP3 variants in cases vs controls — Baseline
Trial sites (1)
Facility
City
Region
Status
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Milan
Italy
Recruiting
More Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico trials in Italy
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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