Natural History Study of Retinitis Pigmentosa in Patient Carrying Pathogenic Mutations in RHO, PDE6A or PDE6B.
试验速览
- 阶段
- 不适用
- 入组人数
- 113
- 试验地点
- 1
- 主要终点
- Fundus Autofluorescence (FAF)
研究概览
简要总结
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.
详细描述
This is a retrospective, longitudinal, observational case history study to determine the natural history of rods and cones degeneration in patients diagnosed with RP caused by pathogenic mutations in genes with selective expression in rods: rhodopsin (RHO), phosphodiesterase 6A (PDE6A) or phosphodiesterase 6B (PDE6B).
113 participants will be enrolled in this study at the single center: CHNO-CIC Quinze-Vingt Paris in France.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B genes.
排除标准
- •Patients with a pathogenic mutation in any other gene known to be involved in RP.
- •Patients with any ocular disorder other than RP, likely to impact the retinal function.
结局指标
主要结局
Fundus Autofluorescence (FAF)
时间窗: 2 years
Progression of disease as measured by FAF (Hyperautofluorescent ring)
Spectral Domain Optical Coherence tomography (SD-OCT)
时间窗: 2 years
Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).
Visual acuity
时间窗: 2 years
Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction
Visual field
时间窗: 2 years
Progression of disease over time as measured by visual fields (kinetic and static)
次要结局
- Patients characteristics(2 years)
- Electroretinogram (ERG)(baseline (At diagnosis))
- Color vision(2 years)
- Clinical diagnosis(baseline (At diagnosis))
- Genetic diagnosis(baseline (At diagnosis))