Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 500
- 试验地点
- 3
- 主要终点
- Number of patients with suspected PID for whom a genetic cause has been identified
研究概览
简要总结
Individuals with suspected primary immunodeficiency will be studied and the results compared with healthy controls. Primary immunodeficiency may manifest as recurrent, severe or unusual infections as well as signs and symptoms of immune dysregulation such as autoimmunity or lymphoproliferation.
详细描述
Patients with a suspected immunodeficiency will be identified and invited to participate. Upon agreement, an additional blood sample will be collected when they have their routine bloods taken. If the study participants undergoes anaesthesia for any other reason, a small skin biopsy will be taken as well. Additional samples including blood samples or mouth swabs will be taken from healthy family members. Blood from healthy controls will only be taken when there is a clinical need for blood sampling (or when the study participant is already anaesthetised for any other reason) and not for research purposes only.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 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: Pediatric patients (in/outpatient or referred) with suspected or confirmed Inborn Errors of Immunity.
- •Relatives: Healthy or affected biological relatives of enrolled patients.
- •Controls: Healthy volunteers with no history of chronic immunological, inflammatory, or infectious disease.
- •Consent: Ability to provide signed informed consent (or guardian consent).
排除标准
- 未提供
研究组 & 干预措施
Patients with suspected PID
From included patients with suspected primary immunodeficiency (PID), i.e. patients with recurrent/unusual infection, immune dysregulation and/or susceptibility to malignancies from whom consent to participate was obtained, nucleated blood cells and/or fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement.
干预措施: Blood Sampling (Procedure)
Patients with suspected PID
From included patients with suspected primary immunodeficiency (PID), i.e. patients with recurrent/unusual infection, immune dysregulation and/or susceptibility to malignancies from whom consent to participate was obtained, nucleated blood cells and/or fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement.
干预措施: Skin Biopsy (Procedure)
Patients with suspected PID
From included patients with suspected primary immunodeficiency (PID), i.e. patients with recurrent/unusual infection, immune dysregulation and/or susceptibility to malignancies from whom consent to participate was obtained, nucleated blood cells and/or fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement.
干预措施: Mouth Swab or Saliva Collection (Procedure)
Healthy Relatives of Patients with PID
From healthy relatives of patients with suspected PID from whom consent to participate was obtained, nucleated cells will be used for genetic testing in order to compare their genetic information with the one form their relatives with suspected PID.
干预措施: Mouth Swab or Saliva Collection (Procedure)
Healthy Relatives of Patients with PID
From healthy relatives of patients with suspected PID from whom consent to participate was obtained, nucleated cells will be used for genetic testing in order to compare their genetic information with the one form their relatives with suspected PID.
干预措施: Blood Sampling (Procedure)
Healthy Volunteers
From healthy volunteers from whom consent to participate was obtained, nucleated blood cells will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement. The data obtained will be compared to age matched patients with suspected PID.
干预措施: Blood Sampling (Procedure)
Healthy Volunteers
From healthy volunteers from whom consent to participate was obtained, nucleated blood cells will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement. The data obtained will be compared to age matched patients with suspected PID.
干预措施: Mouth Swab or Saliva Collection (Procedure)
结局指标
主要结局
Number of patients with suspected PID for whom a genetic cause has been identified
时间窗: Through study completion, an average of 3 years
Number of patients with suspected primary immunodeficiency included in the study for whom a diagnosis can be made with the genetic and functional data obtained from patients, their relatives and healthy volunteers.
次要结局
未报告次要终点