NCT02866162已完成不适用
Identification of the Molecular Bases of Syndromic Congenital Neutropenia With Development Anomalies
适应症
干预措施
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 25
- 试验地点
- 1
- 主要终点
- Identification of a gene or genes responsible for congenital neutropenia syndromic
研究概览
简要总结
Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs. Most patients have syndromic congenital neutropenia, which does not correspond, either clinically or genetically, to any other previously described form. A large number of genes still have to be identified in these syndromic forms.
The aim of this study is to identify the molecular bases of congenital neutropenias that have not yet been classified, by taking advantage of high-throughput exome sequencing.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Persons who have provided written consent
- •Patients with congenital neutropenia and mental retardation and/or a development anomaly (malformation, facial dysmorphism)
- •Patients who accept a clinical evaluation, and to give at least one blood sample
- •Screening for chromosomal microrearrangements by normal array-CGH
排除标准
- •Persons without national health insurance cover
- •Patients who do not meet the clinical and/or biological criteria
- •Refusal to give written consent to take part in the study
- •Refusal to give a blood sample
- •Blood samples from parents not available
研究组 & 干预措施
patients with neutropenia
干预措施: High-throughput exome sequencing (Genetic)
结局指标
主要结局
Identification of a gene or genes responsible for congenital neutropenia syndromic
时间窗: day 1
次要结局
未报告次要终点
研究者
研究点 (1)
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