NCT04124185已完成不适用
Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 85
- 试验地点
- 1
- 主要终点
- Optical Coherence Tomography
研究概览
简要总结
In preparation for human clinical trials we intend to undertake a detailed phenotypic study to help to identify patients who may be suitable for therapeutic intervention. In addition, with the recent availability of advanced imaging modalities, further detailed phenotypic investigations will also be valuable in helping to probe the relationship between structure and function and may shed light on disease mechanisms.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Years 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with molecularly proven Achromatopsia or a typical clinical Achromatopsia phenotype with genetic screening pending.
- •Minimum subject age of 3 years.
- •Able to give consent/parent or guardian able to give consent.
排除标准
- •Patients unable or unwilling to undertake consent or clinical testing.
- •Patients unwilling to donate a blood sample in order to establish the genetic cause of their condition.
结局指标
主要结局
Optical Coherence Tomography
时间窗: 5 years
Corneal curvature
时间窗: 5 years
Axial length
时间窗: 5 years
Contrast sensitivity
时间窗: 5 years
Visual acuity
时间窗: 5 years
Complete ocular examination
时间窗: 5 years
次要结局
未报告次要终点
研究者
研究点 (1)
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