CTRI/2025/08/093263尚未招募不适用
Genetic Testing and Deep Phenotyping of Inherited Retinal Diseases (IRDs) in Indian population: A prospective, multicenter study
Vitreo Retinla Socirty of India (VRSI)9 个研究点 分布在 1 个国家目标入组 144 人开始时间: 2025年9月15日最近更新:
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 144
- 试验地点
- 9
- 主要终点
- 1)This study will provide a comprehensive, uniform and prospective phenotypic data using newer multimodal imaging techniques. This will depict the varied clinical presentation of RP in Indian population.
研究概览
简要总结
N/A
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 18.00 Year(s) 至 70.00 Year(s)（—）
- 性别
- All
入选标准
- •Individuals diagnosed with RPwill be includedfrom 9 centres by experienced retina specialist with expertise in management of IRDs. The diagnosis will be based on deep phenotyping including comprehensive ophthalmic examination, retinal multimodal imaging and electrophysiology wherever available.Patients presenting with nyctalopia, visual field loss and/or decreased vision, and having diffuse and/or widespread retinal pigment epithelial degeneration, arterial narrowing, disc pallor, and evidence of generalised rod and cone involvement will be diagnosed as RP.
排除标准
- •a) Individuals with non-genetic retinal disorders will not be included.
- •b) Individuals with IRDs other than RP will not be included.
- •c) Participants who refuse to or are unable to provide informed consent for genetic testing will not be included.
结局指标
主要结局
1)This study will provide a comprehensive, uniform and prospective phenotypic data using newer multimodal imaging techniques. This will depict the varied clinical presentation of RP in Indian population.
时间窗: 36 week
2)This study will provide the prevalence of disease causing genetic variants for RP in Indian population usinga uniform genetic testing method i.e Whole exome Sequencing or WES by a single certified service provider (Medgenome Labs Pvt. Ltd., Bengaluru, India).
时间窗: 36 week
次要结局
- NA(NA)
研究者
Dr Parveen Sen
Dr. Agarwal Group of Eye Hospitals
研究点 (9)
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