Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6a or PDE6b Mutations
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 82
- 试验地点
- 2
- 主要终点
- Spectral Domain Optical Coherence tomography (SD-OCT)
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 an open, longitudinal, prospective, multicentric study to describe the disease progression in patients with retinitis pigmentosa due to mutation in genes with selective expression in rods: rhodopsin (RHO), phosphodiesterase 6a (PDE6a) or phosphodiesterase 6b (PDE6b).RHO,PDE6A or PDE6B mutation.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •RP with mutations affecting the RHO, PDE6A and PDE6B genes
- •Visual acuity ≥ 20/200 for at least one eye at inclusion visit
- •Binocular Visual field diameter ≥ 5° as measured on the Goldmann III-4e isopter at inclusion visit
- •Patients having signed the informed consent form
- •Sufficient knowledge of the local language to ensure understanding of the tasks to be performed and the instructions received
- •Patient affiliated to a Health Security System if they are included in a clinical site based in France (per law)
排除标准
- •Patients with any other gene mutation known to be involved in RP
- •Patients with other ocular disorder likely to impact the retinal function
- •Pregnant or breastfeeding women
研究组 & 干预措施
Study Group 1
Four years follow up of patients with ophthalmic examination.
干预措施: Ophthalmic examinations (Other)
Study Group 2
Four years follow-up of patients with ophthalmic examination and mobility testing.
干预措施: Ophthalmic examinations (Other)
Study Group 2
Four years follow-up of patients with ophthalmic examination and mobility testing.
干预措施: Mobility Test (Other)
结局指标
主要结局
Spectral Domain Optical Coherence tomography (SD-OCT)
时间窗: 1 year
Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).
Fundus Autofluorescence (FAF)
时间窗: 1 year
Progression of disease as measured by FAF (Hyperautofluorescent ring)
次要结局
- Visual acuity(1 year)
- Visual field(1 year)
- Full-field stimulus threshold (FST)(1 year)
- Color vision(1 year)
- Dark adaptometry (DA)(1 year)