NL-OMON56829尚未招募不适用
niversal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated with Rare Disease-Causing Genetic Variants - Uni-Rare
JAEB Center For Health Research0 个研究点目标入组 40 人开始时间: 待定最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 40
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 2 至 99(—)
入选标准
- •Have retinal degeneration
- •Have one or more mutations in one of your genes that is the cause of your
- •retinal degeneration
- •Be willing and able to give consent
- •Be willing to have annual study phone calls over four years
- •Have eyes in which photographic imaging is possible
- •Be at least 4 years old
排除标准
- •Have a history of treatment that could have affected the retina
- •Have a history of certain eye conditions or surgeries that may affect the
- •tests for this study
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