Thrombotic Thrombocytopenic Purpura, Acquired
Conditions
Keywords
A20, iTTP, TNFAIP3
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.
Interventions
PROCEDUREblood sampling
Blood sampling for experimental analyses.
Sponsors
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
12 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Allele frequency of TNFAIP3 variants in cases vs controls | Baseline |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
Italy
Contacts
CONTACTIlaria Mancini, PhD
PRINCIPAL_INVESTIGATORIlaria Mancini, PhD
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Outcome results
None listed