NCT06928233进行中（未招募）不适用
Association of the TNFAIP3 Genomic Locus With Immune-mediated TTP
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico2 个研究点 分布在 1 个国家目标入组 400 人开始时间: 2025年4月4日最近更新:
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 400
- 试验地点
- 2
- 主要终点
- Allele frequency of TNFAIP3 variants in cases vs controls
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 12 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Inclusion Criteria:
- •Diagnosis of iTTP
- •Above 12 years of age
- •Caucasian, Italian origin
- •Written informed consent to participate in the study
排除标准
- •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.
结局指标
主要结局
Allele frequency of TNFAIP3 variants in cases vs controls
时间窗: Baseline
次要结局
- TNFAIP3 (A20) mRNA expression levels in peripheral blood(Baseline)
- Association between TNFAIP3 genotype and gene expression(Baseline)
- Clinical relapse rate of iTTP during follow-up(Baseline)
- Severity of acute iTTP episodes(Baseline)
- Age at iTTP onset(Baseline)
研究者
Ilaria Mancini
PhD
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
研究点 (2)
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