Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 140
- 试验地点
- 8
- 主要终点
- Analysis of retinal structure and function to assess disease progression
研究概览
简要总结
The rod-cone dystrophies (often referred to as retinitis pigmentosa (RP)) are a clinically and genetically heterogeneous group of disorders in which there is progressive loss of rod and later cone photoreceptor function leading to severe visual impairment. RP usually occurs as an isolated retinal disorder, but it may also be seen in association with systemic abnormalities.
详细描述
X-linked Retinitis Pigmentosa (XLRP) is a severe form of RP with early onset of nyctalopia and progression to legal blindness by the 3rd to 4th decade. Most affected males show symptomatic night blindness before the age of 10 years, are often myopic and show fundus abnormalities and ERG changes in early childhood. Examination of close female relatives is helpful in the absence of a family history, as the recognition of the XL carrier state will confirm the diagnosis.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 5 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Males & Females aged 5 years or older
- •Have RPGR-associated retinal dystrophy
- •Are able to give informed consent or assent, with the guidance of their parent/guardian where appropriate
- •Are able to undertake age-appropriate clinical assessments as specified in the protocol
- •Have genetic mutation within the RPGR gene confirmed by an accredited lab or research lab.
排除标准
- •Are unable or unwilling to undertake consent or clinical testing
结局指标
主要结局
Analysis of retinal structure and function to assess disease progression
时间窗: 6 years
Retinal structure will be measured using Adaptive optics and SD-OCT and Fundal autofluorescence.
次要结局
- Retinal Structural detailed phenotyping(6 years)
- Retinal Sensitivity(6 years)
- Fundus Autofluorescence(6 years)
- Visual Fields testing(6 years)