Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 103
- 试验地点
- 1
- 主要终点
- Description of the genotypic characteristics of patients with hereditary retinal dystrophies.
研究概览
简要总结
This study will carry out a detailed descriptive analysis of a large population of patients with hereditary retinal dystrophies (HRD): clinical, paraclinical and genetic data.
The information drawn from these analyzes will provide a better understanding of the pathophysiology of these rare diseases and this may ultimately impact the medical management of patients (targeted therapy).
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
- 15 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients hospitalized for suspicion of hereditary retinal dystrophy
- •Benefiting as part of the care of a genetic analysis
排除标准
- •- Patient under a measure of legal protection
结局指标
主要结局
Description of the genotypic characteristics of patients with hereditary retinal dystrophies.
时间窗: Baseline
Determination of the genetic mutations responsible for retinal dystrophy in order to confirm the phenotypic diagnosis and identify correlation between the phenotypic and genotypic characteristics
Description of the phenotypic characteristics of patients with hereditary retinal dystrophies.
时间窗: Baseline
Phenotypic diagnosis of the type of retinal dystrophy based on all the examinations performed as part of the usual care and examinations added by the research (OCT-Angiography - Optical coherence tomography, and visual acuity with ETDRS scale : Early Treatment Diabetic Retinal Study, ETDRS).
次要结局
未报告次要终点