Phenotype Correlates Genotype of Inherited Retina Dystrophies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 17,000
- 试验地点
- 1
- 主要终点
- Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis,
研究概览
简要总结
Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.
详细描述
Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic, etc.) will be correlated with genotype and validate inheritance mode by segregation analysis. Ocular exam of proband, parents and two unaffected siblings is needed, retina analysis, autofluorescence and ocular coherence tomography (OCT) are needed as well as family map. Blood samples 10ml max blood extraction will be sent and genotype will be analyzed.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Weeks 至 90 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Diagnosis of inherited retina dystrophy or retinitis pigmentosa
- •Must be able to perform all study tests.
- •Must be able to visit every year.
排除标准
- •Not willing to visit every year.
结局指标
主要结局
Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis,
时间窗: 8 years
Molecular variation correlates with specific phenotype based on autofluorescence, retina analysis, macular coherence tomography.
次要结局
- Preliminary Natural History(5 years)