Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 20
- 试验地点
- 2
- 主要终点
- Number of Participants with a constitutional structural variants detected by OGM
研究概览
简要总结
The goal of this clinical trial is to identify structural variants by Optical Genome Mapping (OGM) in the described participant population.
The main questions it aims to answer are:
- Identify constitutional structural variants by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive.
- Identify mosaic structural variants (present in a subpopulation of somatic cells only) by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive.
- Compare the diagnostic yields of OGM and of Comparative Genome Hybridization Array (CGH array) methods.
- Compare the diagnostic yields of the OGM and of Whole Genome Sequencing (National Sequencing Program), only if performed.
Participants will be required to:
- a follow-up interview with a physician to review their own and family medical and surgical history, with a focusing on DSD.
- An interview to assess their exposure to environmental pollutants during fetal life, using a validated questionnaire.
- a blood test with a 5mL tube to perform optical genome mapping analysis.
详细描述
Patients with severe or moderate disorder of sex development (DSD) with a inconclusive molecular diagnosis will benefit from optical genome mapping analysis.
A venous blood sample on ethylenediaminetetraacetic acid (EDTA) tube (5mL) will be taken in order to extract the DNA that will be used for the optical genome mapping analysis.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 6 Months 至 —（Child, Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •homogeneous XY male karyotype.
- •patient at least 6 months old
- •severe to moderate DSD (Prader 1 to 5) for which the molecular diagnosis is inconclusive after a gene panel analysis.
排除标准
- •subject with a homogeneous or mosaic XX, or monosomal X karyotype.
- •subject with an aneuploidy.
- •subject with a conclusive molecular diagnosis explaining the observed DSD (i.e. carrier of a causal genotype already well characterized by functional studies)
结局指标
主要结局
Number of Participants with a constitutional structural variants detected by OGM
时间窗: Day of inclusion
A structural variant, present at the constitutional state in leukocyte DNA, and considered as likely pathogenic or pathogenic, identified by OGM in at least one of the included patients.
次要结局
- Number of Participants with mosaic structural variants detected by OGM(Day of inclusion)