NCT04770519招募中不适用
Genetic Studies of Strabismus, Nystagmus, and Associated Disorders
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 400
- 试验地点
- 1
- 主要终点
- Genetic variants
研究概览
简要总结
Strabismus (misalignment of the eyes) often runs in families. In this study, the investigators are looking for genetic variants associated with strabismus and nystagmus. Three types of subects will be enrolled: (1) Families with at least 3 members with strabismus, (2) individuals with infantile esotropia and their parents and siblings, and (3) individuals with infantile nystagmus and their parents. Whole exome and/or whole genome sequencing will be used to identify genetic variants shared by family members with strabismus and to identify genetic causes of nystagmus.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •- Member of a family with at least 3 biological relatives with strabismus. (Both affected and non-affected family members will be enrolled).
- •- Member of a family with at least 1 individual with infantile esotropia. (Both affected and non-affected family members will be enrolled).
- •- Member of a family with at least 1 individual with infantile nystagmus. (Both affected and non-affected family members will be enrolled).
排除标准
- •paralytic strabismus in affected family members
结局指标
主要结局
Genetic variants
时间窗: 2 years
genetic variants shared by family members with strabismus
次要结局
未报告次要终点
研究者
Mary Whitman
Associate Professor of Ophthalmology
Boston Children's Hospital
研究点 (1)
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