Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 160
- 试验地点
- 8
- 主要终点
- Quantification of interleukin-1β
研究概览
简要总结
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome. Inflammasomes are protein complexes of the innate immunity that produce pro-inflammatory cytokines (interleukin-1β).
In vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine (measured by the concentration of interleukin-1β) by kinase inhibitors is significantly increased in FMF patients compared to healthy subjects. Furthermore, a measurement of cell death gave significant results in differentiating the patients from the controls.
The performance of this functional has been tested, fast and simple diagnostic test on common mutations and wish to assess its characteristics for MEFV mutations.
The investigators hypothesize that this quick and simple functional test can serve as a diagnostic tool for FMF and can quantitatively discriminate against patients with different mutations (genotypes).
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 4 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Children 4 years of age or older or adults
- •Having a clinical picture compatible with an FMF and a previous genetic analysis finding at least one mutation of the MEFV gene pathogenic or possibly pathogenic for the FMF group;
- •Newly diagnosed or in the process of follow-up (with no time limit or evolutionary criteria);
- •During specific or non-specific treatment of the disease or without treatment;
- •For whom a blood test is planned as part of routine care;
- •Whose informed non-opposition has been collected (or parental non-opposition in the case of a minor patient);
排除标准
- •Person under legal protection or under the protection of justice or any other protective measures;
- •Person out of state to express their consent;
- •Person in emergency situation, vital or not;
- •Known infections with HIV and / or HBV and / or HCV;
结局指标
主要结局
Quantification of interleukin-1β
时间窗: At inclusion
quantification of the capacity of the concentration of interleukin-1β measured in the supernatants of primary monocytes in response to kinase inhibitors, to discriminate between FMF subjects among themselves according to genotypes, and among control subjects (healthy subjects). All samples will be analysed in the INSERM Unit 1111 - CIRI Centre International de Recherche en Infectiologie - Lyon - Team Inflammasome, bacterial infections and autoinflammation.
次要结局
未报告次要终点