Search for Genetic Markers and Biomarkers to Follow Patients With Intellectual Disabilities of Genetic Origin and to Understand Its Origin and Associated Comorbidities
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 2,000
- 试验地点
- 2
- 主要终点
- Identification of biomarkers in blood
研究概览
简要总结
Analyze genetic and biological markers in patients with Intellectual Deficiencies (ID) of genetic origin in order to better understand the mechanisms of modified genes, cellular mechanisms, pathways involved in different disorders , complications and pathologies associated with ID of genetic origin.
详细描述
Blood and skin samples will be taken from patients coming at the outpatients clinic of the Institut Jérôme Lejeune and who consent to participate to the study. Search and identification of markers will be then done from the collected samples.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patient diagnosed with an intellectual disability of genetic origin
- •Patient of all ages coming for consultation at the Institut Jérôme Lejeune
- •Patient whose parents or legal representative have received and understood the information document and signed the informed consent for a sample for the research project.
- •Patient affiliated to a social security scheme
排除标准
- •Parents unable to find out about the constraints related to the study
- •Refusal of informed patient participation
- •Pregnant, parturient and nursing mothers
- •Persons deprived of their liberty by judicial or administrative decision
结局指标
主要结局
Identification of biomarkers in blood
时间窗: 10 years
Analysis of biomarkers from blood samples taken during the visit
Identification of biomarkers from skin samples
时间窗: 10 years
Analysis of biomarkers from skin samples taken during the visit
次要结局
未报告次要终点