Assessment of a Functional Test to Detect Familial Mediterranean Fever
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 107
- 试验地点
- 4
- 主要终点
- Differences in interleukin-1bβ levels
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 due to mutations of the MEFV gene, encoding variants of the Pyrin inflammasome. Inflammasomes are protein complexes of innate immunity producing pro-inflammatory cytokines (interleukin-1β).
In vitro, preliminary results demonstrated that activation of the Pyrin inflammasome (measured by interleukin-1β concentration) by kinase inhibitors is significantly increased in FMF patients compared to subjects with a similar clinical picture, and healthy controls. In addition, a measure of cell death yielded significant results in differentiating patients from controls.
The investigators hypothesize that this fast and simple functional test can serve as a diagnostic tool for FMF.
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
- •Clinical picture compatible with an Familial Mediterranean Fever and an earlier genetic analysis finding a mutation of the MEFV gene;
- •Newly diagnosed or undergoing follow-up (without criteria of delay or evolutionary stage);
- •In the course of specific or non-specific treatment of the disease or without treatment;
- •For whom a blood test is planned as part of the routine care;
- •Of whom the informed non-opposition has been collected (parental authorization in the case of a minor patient);
排除标准
- •patient under legal protection or under safeguard of justice or any other measures of protection (guardianship, curatorship);
- •Person unable to express his consent;
- •Person in emergency situation, vital or not;
- •Infection known to HIV and / or HBV and / or HCV
结局指标
主要结局
Differences in interleukin-1bβ levels
时间窗: Less than 48 hours
Quantification of the capacity of interleukin-1β concentration measured in primary monocyte supernatants in response to kinase inhibitors, to discriminate Familial Mediterranean Fever subjects from control subjects (healthy subjects and subjects with symptoms similar to those of Familial Mediterranean Fever). Analysis have to be performed Less than 48 hours after blood sampling (only one sampling).
次要结局
未报告次要终点