Association of the TNFAIP3 Genomic Locus With Immune-mediated TTP
Trial Snapshot
- Phase
- Not Applicable
- Status
- Active, not recruiting
- Enrollment
- 400
- Locations
- 1
- Primary Endpoint
- Allele frequency of TNFAIP3 variants in cases vs controls
Study Overview
Brief 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.
Study Design
- Study Type
- Interventional
- Allocation
- Non Randomized
- Intervention Model
- Parallel
- Primary Purpose
- Basic Science
- Masking
- None
Eligibility Criteria
- Ages
- 12 Years to — (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- •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.
Arms & Interventions
Patients with iTTP
Intervention: blood sampling during standard collection for routine testing, with additional sample for experimental analyses.
Intervention: blood sampling (Procedure)
Healthy donors
Intervention: blood sampling during standard donation, with an additional sample collected for experimental analyses.
Intervention: blood sampling (Procedure)
Outcomes
Primary Outcomes
Allele frequency of TNFAIP3 variants in cases vs controls
Time Frame: Baseline
Secondary Outcomes
- Association between TNFAIP3 genotype and gene expression(Baseline)
- TNFAIP3 (A20) mRNA expression levels in peripheral blood(Baseline)
- Clinical relapse rate of iTTP during follow-up(Baseline)
- Severity of acute iTTP episodes(Baseline)
- Age at iTTP onset(Baseline)
Investigators
Ilaria Mancini
PhD
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico