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 Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Enrollment
400
Blood sampling for experimental analyses.
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Milan, Italy
Allele frequency of TNFAIP3 variants in cases vs controls
Time frame: Baseline
TNFAIP3 (A20) mRNA expression levels in peripheral blood
TNFAIP3 (A20) mRNA expression levels in peripheral blood of cases versus controls
Time frame: Baseline
Association between TNFAIP3 genotype and gene expression
Time frame: Baseline
Clinical relapse rate of iTTP during follow-up
Association between TNFAIP3/A20 variation and iTTP relapse in iTTP patients
Time frame: Baseline
Severity of acute iTTP episodes
Association between TNFAIP3/A20 variation and the severity of acute iTTP (composite endpoint including death, treatment refractoriness, exacerbation, and prolonged disease course)
Time frame: Baseline
Age at iTTP onset
Association between TNFAIP3/A20 variation and age at onset in iTTP patients
Time frame: Baseline
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