Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 1,161
- 试验地点
- 1
- 主要终点
- identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP)
研究概览
简要总结
Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease."
详细描述
Two hundred and fifty samples from unrelated patients, from which 150 were provided by the national reference center of rare disease in Montpellier and 100 recruited in the 9 participating centers over a period of two years."To identify the missing genes, we proceed in two steps. A first step in selecting families negative for the 8 major genes genes, by systematic sequencing of exons most frequently involved. A second step in finding new loci / genes by locus exclusion using microsatellite markers and SNP genotyping.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 5 Years 至 80 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •retinitis pigmentosa diagnosed
- •Autosomal dominant transmission diagnosed
- •Aged from 5 to 80 years
- •Informed consent
- •Affiliated or benefit from an insurance regimen
排除标准
- 未提供
研究组 & 干预措施
patient
Patient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention)
干预措施: genetic analysis (Genetic)
结局指标
主要结局
identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP)
时间窗: for 5 years
次要结局
未报告次要终点