Clinical Implication of the Molecular Diagnostic Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing (RP-SEQ-HD)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 500
- 试验地点
- 4
- 主要终点
- Number of patients with a deleterious mutation
研究概览
简要总结
The retinitis pigmentosa (RP) are genetic conditions that cause retinal degeneration leading to severe low vision and is the leading cause of consultation in reference centers dedicated to the ophthalmic genetics. These rare diseases are characterized by a triple heterogeneity (clinical, genetic and molecular), which made them unreachable by traditional molecular diagnostic sequencing technology by the large number of genes to be tested (> 190).
The advent of high-throughput sequencing (NGS) and targeted capture has opened unexpected possibilities of investigation and ultimately to improve the care of patients. This project aims to study the genetic and molecular epidemiology of an interregional french (grand EST) cohort of patients. Patients receive a detailed retinal phenotype (visual acuity, visual field, photographs of the fundus and ERG). Their DNA will be analyzed by NGS targets the 190 known genes (https://sph.uth.edu/retnet/).
This research will provide a molecular epidemiological cohort study compared to prior publications on the frequency of genes involved. The benefit for patients is important to: establish a mode of transmission of the disease and optimize genetic counseling (currently very empirical); establish phenotype-genotype correlations in the French population (very few studies to date) and from the data of international literature; identify patients likely to be included in future therapeutic protocols of research; identify patients with significant potential for future projects to identify new genes.
The primary purpose of the protocol is to use high throughput sequencing to identify pathogenic variants in genes involved in RP.
The secondary purposes will be the following:
- Determining the diagnostic yield
- Study the genotype-phenotype correlation.
The secondary purposes will be the following:
- Determining the diagnostic yield
- Study the genotype-phenotype correlation
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
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Subject of both sex, aged at least 2 years, being diagnosed with an RP, and/or having a family history of RP
- •Informed about the results of the preliminary medical visit, or which (s) holder (s) parental authority or the guardian / curator has (have) was (been) informed
- •Informed consent signed
- •Affiliation to the French health system
排除标准
- •The patient does not want to participate to the protocol
- •Intercurrent diseases do not allow the practice of tests provided for this protocol
- •Phenocopy
- •Subject excluded or being excluded by another protocol
- •Subject in emergency case
- •Subject under judicial protection
结局指标
主要结局
Number of patients with a deleterious mutation
时间窗: 18 months
次要结局
- Percentage of positive diagnostic(18 months)
- Number of gene with a genotype-phenotype correlation(18 months)