Identification of Germline BAP1 Mutation In Subjects With Choroidal Nevi or Uveal Melanoma
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 133
- 试验地点
- 1
- 主要终点
- Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi
研究概览
简要总结
The BAP1 trial will examine the blood of patients diagnosed with choroidal nevi or uveal melanoma for a germline BAP1 mutation and other genetic markers associated with developing malignancy as well as additional sequencing of the uveal melanoma genome.
详细描述
A germline BAP1 mutation predisposes a person to developing uveal melanoma and other cancers. If a mutation is discovered, it changes the potential approach to managing the nevus. In the presence of a known genomic change associated with aggressive disease, closer follow up and more aggressive treatment could preserve the patient's vision and prevent micrometastatic spread. This new screening technique will be able to extend the length and quality of life of patients with more frequent targeted cancer screens.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •any person with choroidal nevi
- •Willingness to provide signed informed consent
- •Age > 18 years
- •Diagnosis of choroidal nevi or uveal melanoma
- •Threre are no exclusionary criteria for this study.
排除标准
- 未提供
结局指标
主要结局
Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi
时间窗: 1 Year
次要结局
未报告次要终点
研究者
Amy C Schefler, MD
Director of Ophthalmic Oncology
Greater Houston Retina Research