Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 410
- 试验地点
- 2
- 主要终点
- Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome
研究概览
简要总结
In order to understand the molecular mechanisms leading to Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), the research team has to identify molecular bases of this anomaly.
Toward this goal, the research team would like to include in the study patients with MRKH syndrome, as well as their healthy relatives, in order to perform genetic analyses, especially whole exome sequencing.
This study has been set up in order to collect biological samples from patients with MRKH and their relatives.
详细描述
The MRKH is a congenital and rare malformation characterised by the absence of the uterus and of 2/3 of the vagina. The incidence is 1 in 4500 female children (46,XX) and a genetic component has been identified.
In order to understand the molecular mechanisms leading to this disease, the research team has to identify the genetic abnormalities.
This study will be led by the research team of the Imagine Institute and the clinical teams associated with the Reference Center for Rare Diseases PGR (Rare Gynecologic Diseases). Both groups are based on the Necker Hospital campus, and already closely collaborate on research into MRKH syndrome.
This collaboration will allow to :
i) collect biological samples from the propositus and their relatives,
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patient with MRKH syndrome OR healthy relative of patient included
- •Having signed the Informed consent form (or parents in case of patient under 18 years)
排除标准
- •Refusal to participate in genetic analyses
- •Participation in a therapeutical clinical study in the 30 days prior to inclusion in the present study.
结局指标
主要结局
Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome
时间窗: 15 years
Genetic cause identification
次要结局
未报告次要终点