Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses
试验速览
- 阶段
- 不适用
- 入组人数
- 600
- 试验地点
- 1
- 主要终点
- Enrichment of rare coding genetic variants
研究概览
简要总结
This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin Diseases. After collecting informed consent, all patients' clinical phenotype is graded at inclusion with a detailed case report form and a discovery cohort formed based on the certainty of diagnosis. The DNA of patients in the discovery cohort is analyzed by whole exome sequencing which identifies all protein-coding genetic variants. Subsequently, statistical burden tests are going to identify enrichment of rare coding genetic variants in patients affected by Neutrophil-Mediated Inflammatory Skin Diseases.
The ultimate goal is to reveal the responsible gene(s) that may then be targets for clinical intervention.
详细描述
Timeframe:
- Collection of DNA for discovery cohort until 05/2016
- Data analysis until 12/2014 for pyoderma gangrenosum, until 12/2016 for other NMID
- Report and data presentation early 2015 for PG, 2017 for other NMID
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- — 至 120 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Enrichment of rare coding genetic variants
时间窗: baseline
Whole exome sequencing is going to detect rare coding genetic variants in cases of Neutrophil-Mediated Inflammatory Skin Diseases. Statistical burden tests are applied to test for excess of rare variants in cases versus available controls of matching ancestry.
次要结局
未报告次要终点