Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 50
- 试验地点
- 2
- 主要终点
- Proportion of patients presenting Y chromosome material detected by the cfDNA test
研究概览
简要总结
Turner syndrome affects 1/2500 female newborns. It is characterized by a short stature, gonadal dysgenesis and bone anomalies. It is secondary to X chromosome abnormality. The clinical course can be marked by various complications, including degeneration of gonadal streaks into cancer (gonadoblastoma). The risk of gonadoblastoma is increased by the presence of Y chromosome, with a risk of 19 to 43%. However, Y chromosome material may be difficult to identify due to its mosaic state, at varying rates depending on the tissue. Free circulating DNA (cfDNA) corresponds to fragments of extracellular DNA present in the plasma, released into the circulation during cell death processes by the various tissues of the body. Due to its multiple tissue origins and easy collection, cfDNA appears to be a suitable matrix for searching for low mosaic Y chromosome sequences in patients with Turner syndrome.
The main objective of the study is to develop a cfDNA-based test to look for Y chromosome sequences in 50 patients with Turner syndrome. The secondary objectives are to determine the mosaic detection threshold of this test and to compare the performance of this test with the fluorescence in situ hybridization (FISH) technique used in routine diagnosis.
This study will assess the detection sensitivity of this test and its relevance in a clinical context.
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
- 2 Years 至 74 Years（Child, Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •patient aged 2 to 74 years
- •with a diagnosis of Turner syndrome confirmed by karyotype
- •who have given their consent or whose legal representative(s) have given their consent(s) consent(s) to participate in the study
- •affiliated to the French Social Security system or benefiting from such a system
排除标准
- •male phenotype
- •patient or legal representative(s) with comprehension difficulties (linguistic, etc.)
- •patients covered by articles L.1121-5 to L.1121-8 of the CSP (French Public Health Code)
研究组 & 干预措施
Turner syndrome patients
Patients with a Turner syndrome confirmed by karyotype.
干预措施: cfDNA analysis (Genetic)
结局指标
主要结局
Proportion of patients presenting Y chromosome material detected by the cfDNA test
时间窗: From date of inclusion to date of genetic analysis result
An inferential analysis will allow to estimate the proportion of Y chromosome detection by the cfDNA test and secondly to compare it with data from the literature.
次要结局
- Y chromosome mosaic rate detectable by the cfDNA test.(Up to 26 months)
- Comparison between the cfDNA test and routine FISH analysis(Up to 30 months)