NCT04941027已完成不适用
Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 1,046
- 试验地点
- 2
- 主要终点
- Determination of genetic variants associated with clinical presentations of NF1.
研究概览
简要总结
The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1). This will allow for improve understanding of NF1 pathogenesis and more personalized disease management. The investigators will conduct a GWAS analysis to identify common genetic risk variants associated with the development of cutaneous neurofibromas.
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
- 40 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age 40 or older.
- •NF type 1 diagnosed using clinical criteria.
- •At least one neurofibroma present at time of enrollment.
- •Patient able to read and understand consent form (or equivalent translation) and able to give consent.
- •Patient able and willing to complete all study procedures.
排除标准
- 未提供
结局指标
主要结局
Determination of genetic variants associated with clinical presentations of NF1.
时间窗: Day 1
GWAS analysis will identify common genetic risk variants associated with the development of cutaneous neurofibromas in patients with NF1.
次要结局
未报告次要终点
研究者
Kavita Sarin
Assistant Professor of Medicine
Stanford University
研究点 (2)
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