EXOMEDIANE - Retrospective Study Using High Throughput Sequencing (HTS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 33
- 试验地点
- 1
- 主要终点
- Number of patients with an identified genetic abnormality
研究概览
简要总结
Holoprosencephaly, or HPE, is the most common congenital cerebral malformation in humans and the most severe of a group of pathologies related to a deficiency of the SHH signalling pathway (Sonic Hedgehog SHH-D). It is characterized by severe cerebral and craniofacial abnormalities.
The regulation of SHH concentration is therefore crucial for correct craniofacial development.
Despite the recent identification of about 20 genes, 70% of cases of EHPE and craniofacial midline abnormalities of genetic origin do not have a molecular diagnosis. It is therefore important to continue the search for new candidate genes to improve the understanding of brain and facial development and to improve genetic counseling for these families.
The development of Next-Generation Sequencing (NGS) technologies opens up the possibility of studying the exome or even the genome in a single manipulation. The latter type of analysis is particularly well suited to the discovery of new genes and will therefore improve the care of patients and their families.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with Craniofacial Midline Facial Anomalies (CMFLA) collected for genetic analysis
- •Patients and relatives for whom consent for research-related genetic testing is available. A "trio" - patient and both parents is required for analysis of variant segregation and determination of mode of transmission.
- •For patients who are minors, parental authority(ies) who have given consent for research genetic testing.
- •Affiliation to a social security scheme
- •Patient and parents do not object to their participation in the research.
- •In the case of a patient who has reached the age of majority since the initial consent was obtained, a patient who has given consent to proceed with genetic analyses for research purposes.
排除标准
- •adults subject to legal protection (safeguard of justice, curatorship, guardianship), persons deprived of liberty.
结局指标
主要结局
Number of patients with an identified genetic abnormality
时间窗: 6 months
Number of patients with an identified genetic abnormality
次要结局
- Modes of transmission of pathogenic variants(6 months)
- Pathogenic variants(6 months)
- Number of new genes identified(6 months)