Are Mast Cells Involved in Autoinflammatory Diseases
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 590
- 试验地点
- 1
- 主要终点
- : presence of MCAS
研究概览
简要总结
Autoinflammatory diseases (AID) are caused by innate immunity dysregulation. AID pathophysiology is only partly understood, especially in the case of unclassified AID. Mast cells (MC) are innate immune cells associated with a spectrum of disease between systemic mastocytosis and mast cell activation syndrome. The implication of MC has been shown in cryopyrin associated periodic syndrome (CAPS).Our aim is to evaluate the involvement of MC in AID by assessing clinical and biological signs of MC activation and studying cutaneous and digestive biopsies.
详细描述
Autoinflammatory diseases (AID) are caused by innate immunity dysregulation and characterized by recurrent bouts of fever, frequently associated with digestive, articular or cutaneous symptoms, and sometimes ocular, auricular or neurologic inflammation. The most frequent monogenic AID is Familial Mediterranean fever (FMF).
Despite recent genetic progress AID pathophysiology is only partly understood, especially in the case of unclassified AID.
Mast cells (MC) are innate immune cells associated with a spectrum of disease between systemic mastocytosis and mast cell activation syndrome (MCAS). In MCAS, patients have various symptoms including abdominal pain, bloating, pruritus, flush, anxiety, fatigue, among which some are similar to those seen in patients with AID. The implication of MC has been shown in cryopyrin associated periodic syndrome (CAPS).
Our hypothesis is that MC could be involved in AID pathophysiology,
In order to test this hypothesis, we plan to study :
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients >18 years old with Auto-inflammatory diseases already followed up at the CeRéMAIA (french national reference center for autoinflamamtory diseases and AA amyloidosis) of Tenon hospital and included in the JIRcohorte
- •Healthy adult controls, age- and sex-matched with MAI patients, and controls with mastocytosis, an immuno-inflammatory disease.
- •Subject affiliated to or entitled to a social security scheme
- •Collection of the patient's or healthy control's non-opposition
排除标准
- •Subjects unable to answer questions or express themselves
- •Subjects who do not speak French
- •Subject deprived of liberty or under legal protection.
结局指标
主要结局
: presence of MCAS
时间窗: at inclusion
presence of clinical and biological markers of MCAS
次要结局
- MC infiltration in biopsies from AID patients(at inclusion, retrospectively)
- basophilic polynuclear activation in AID patients(at inclusion, retrospectively)
- comparison of clinical symptoms of MC activation between groups(at inclusion)
- MC mediators associated to AID(at inclusion)