Association of TNFAIP3 With Immune-mediated TTP
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: blood sampling.
- Who it may be relevant to
- Registry conditions: Thrombotic Thrombocytopenic Purpura, Acquired. Basic parameters: from 12 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Association of the TNFAIP3 Genomic Locus With Immune-mediated TTP
Overview
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
- Procedure blood sampling
Blood sampling for experimental analyses.
Primary outcome measures
- Allele frequency of TNFAIP3 variants in cases vs controls [Time frame: Baseline]
Secondary outcome measures (5)
- TNFAIP3 (A20) mRNA expression levels in peripheral blood [Time frame: Baseline]
- Association between TNFAIP3 genotype and gene expression [Time frame: Baseline]
- Clinical relapse rate of iTTP during follow-up [Time frame: Baseline]
- Severity of acute iTTP episodes [Time frame: Baseline]
- Age at iTTP onset [Time frame: Baseline]
Eligibility 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Allocation
- Non-randomized
- Model
- Parallel assignment
- Masking
- Open label
- Primary purpose
- Basic science
Study locations
Italy · 1 center
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico — Milan
Identifiers
NCT: NCT06928233 · A20iTTP · 2022-0469