Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- Natural history of human genetic diseases that affect the immune and neurological systems.
研究概览
简要总结
Over the past twenty years, Prof. Yanick Crow and his team have developed internationally recognized expertise in genetic pathologies affecting the immune and neurological systems. The pathologies studied have a particularly severe impact on patients' quality of life, with a high mortality rate and a significant risk of occurrence in affected families. These pathologies are rare, and very often under-diagnosed. To date, there is virtually no effective curative treatment.
Prof. Crow's team operates at the frontier between clinical and research work, and from experience, the team knows that patients and families affected by these serious pathologies are often highly motivated to help research into the pathology that affects them.
Initially, Prof. Crow's research focused primarily on the study of the genetic disease Aicardi-Goutières Syndrome (AGS). However, there is an undeniable clinical and pathological overlap between AGS and other forms of disease such as autoimmune systemic lupus erythematosus and many other genetic pathologies - e.g. familial lupus engelure, spondyloenchondromatosis and COPA syndrome. This is why research is being extended to all genetic diseases with immune and neurological dysfunctions.
详细描述
The research methodology is classic with regard to many genetic clinical studies, and aims to:
- clinically define the phenotypes of these diseases (in this case, genetic diseases with immune and neurological dysfunctions)
- identify the gene(s) responsible for each disease
- Understand how changes in these genes and protein functions cause these diseases.
It is possible that this research will ultimately lead to the creation of diagnostic tests (e.g. molecular diagnostic screening tests) and treatments that would be clinically very useful for the patients participating in the project. These discoveries could also improve our knowledge of other more common pathologies, particularly those associated with autoimmunity (e.g. when the body increases an immune response against its own tissues).
As a complement to this global research project, Prof. Crow's team intends to study cell populations from patients with no inflammatory pathology, in order to analyze their basal levels of immune and inflammatory mediator production, as well as to assess their capacity (kinetics and amplitude) to respond to stimuli.
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
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Natural history of human genetic diseases that affect the immune and neurological systems.
时间窗: through study completion, an average of 1 year
Natural history of human genetic diseases that affect the immune and neurological systems.
Clinical features of human genetic diseases that affect the immune and neurological systems.
时间窗: through study completion, an average of 1 year
Clinical features of human genetic diseases that affect the immune and neurological systems.
Molecular and cellular basis of human genetic diseases that affect the immune and neurological systems.
时间窗: through study completion, an average of 1 year
Molecular and cellular basis of human genetic diseases that affect the immune and neurological systems.
次要结局
未报告次要终点