NCT03414528已完成不适用
Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing
适应症
干预措施
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 9
- 试验地点
- 1
- 主要终点
- Identification of the genetic defects
研究概览
简要总结
Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing.
Transcriptome analysis of patients with molecularly undetermined PID.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients with primary immunodeficiency (PID)
- •Male and Female participants 0 years to adult age (any)
- •Written informed consent by the participant after information about the research project
排除标准
- •Secondary immunodeficiency
- •Refusal to enter the study
研究组 & 干预措施
Patients with PID
干预措施: Diagnostic Test (Diagnostic Test)
结局指标
主要结局
Identification of the genetic defects
时间窗: 10 years
Whole exome/Genome sequencing will be done to identify new mutations leading to immunodeficiency
次要结局
未报告次要终点
研究者
Janine Reichenbach
Co-Head Division Immunology
University of Zurich
研究点 (1)
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