Pathophysiologie Angeborener Immundefekte
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 2
- 主要终点
- Characterisation of cellular phenotype in different PIDs
研究概览
简要总结
The pathophysiology of primary immunodeficiencies (PID), which encompass a broad range of different diseases with susceptibility to infection and/or a deregulated inflammatory response, is poorly understood. Available treatments are often not specific for a distinct target and might be associated with side effects. To elucidate pathophysiology of different PIDs, stool, urine, blood, tissue biopsies and/or bone marrow will be collected and analysed for anti-microbial activity and inflammatory response. In a second step, targeted treatment for different PIDs might be developed preclinically and ex vivo according to underlying pathophysiology.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Clinical diagnosis of an inborn error of immunity (primary immunodeficiency, PID)
- •Clinically healthy (non-age matched) volunteer
排除标准
- •exclusion of an inborn error of immunity
- •secondary immunodeficiency
- •refusal to enter the study
研究组 & 干预措施
Patient
Patients with Primary Immunodeficiency
干预措施: Diagnostic Test (Diagnostic Test)
Control
Healthy Controls
干预措施: Diagnostic Test (Diagnostic Test)
结局指标
主要结局
Characterisation of cellular phenotype in different PIDs
时间窗: immediately after sampling of biological specimen or up to 10 years later from frozen samples
Immune cell subsets will be analysed for Surface marker Expression or cell activation pathways
Characterisation of functional phenotype in different PIDs
时间窗: immediately after sampling of biological specimen or up to 10 years later from frozen samples
Immune cell subsets will be analysed for cytokine production or cell activation pathways
次要结局
- Identification of potential targets for pathophysiology-specific treatment, or for curative treatment such as gene therapy for different PIDs ex vivo(immediately after sampling of biological specimen or up to 10 years later from frozen samples)
研究者
Janine Reichenbach
Co-Head Division Immunology
University of Zurich