Association of TNFAIP3 With Immune-mediated TTP

Not Applicable

Active, not recruiting

• Conditions: Thrombotic Thrombocytopenic Purpura, Acquired

• Registration Number: NCT06928233
• Lead Sponsor: Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2025-04
• Study Start: 2025-04-04
• Study First Submitted: 2025-04-07
• Study First Submitted QC: 2025-04-07
• Last Update Submitted: 2025-04-07
• Study First Posted: 2025-04-15
• Last Update Posted: 2025-04-15
• Primary Completion: 2026-04
• Study Completion: 2026-04

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 400

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Primary Outcome Measures

Name	Time	Method
Allele frequency of TNFAIP3 variants in cases vs controls	Baseline

Secondary Outcome Measures

Name	Time	Method
TNFAIP3 (A20) mRNA expression levels in peripheral blood	Baseline	TNFAIP3 (A20) mRNA expression levels in peripheral blood of cases versus controls
Association between TNFAIP3 genotype and gene expression	Baseline
Clinical relapse rate of iTTP during follow-up	Baseline	Association between TNFAIP3/A20 variation and iTTP relapse in iTTP patients
Severity of acute iTTP episodes	Baseline	Association between TNFAIP3/A20 variation and the severity of acute iTTP (composite endpoint including death, treatment refractoriness, exacerbation, and prolonged disease course)
Age at iTTP onset	Baseline	Association between TNFAIP3/A20 variation and age at onset in iTTP patients

Trial Locations

Locations (1)

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico; 🇮🇹 Milan, Italy