Association of TNFAIP3 With Immune-mediated TTP
Association of the TNFAIP3 Genomic Locus With Immune-mediated TTP
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
400 participants
Apr 7, 2025
INTERVENTIONAL
Conditions
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
Inclusion Criteria5
- Patients:
- Diagnosis of iTTP
- Above 12 years of age
- Caucasian, Italian origin
- Written informed consent to participate in the study
Exclusion Criteria2
- 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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Interventions
Blood sampling for experimental analyses.
Locations(1)
View Full Details on ClinicalTrials.gov
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NCT06928233