Retrospective Natural History Study of Retinitis Pigmentosa
关键词
抽象
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.
日期
| 最后验证: | 06/30/2019 |
| 首次提交: | 06/03/2019 |
| 提交的预估入学人数: | 06/03/2019 |
| 首次发布: | 06/04/2019 |
| 上次提交的更新: | 07/09/2019 |
| 最近更新发布: | 07/10/2019 |
| 实际学习开始日期: | 09/30/2018 |
| 预计主要完成日期: | 07/30/2019 |
| 预计完成日期: | 08/30/2019 |
状况或疾病
相
资格标准
| 有资格学习的性别 | All |
| 取样方式 | Non-Probability Sample |
| 接受健康志愿者 | 是 |
| 标准 | Inclusion Criteria: - Patients with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B genes. Exclusion Criteria: - 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. |
结果
主要结果指标
1. Visual acuity [2 years]
2. Visual field [2 years]
3. Spectral Domain Optical Coherence tomography (SD-OCT) [2 years]
4. Fundus Autofluorescence (FAF) [2 years]
次要成果指标
1. Patients characteristics [2 years]
2. Clinical diagnosis [baseline (At diagnosis)]
3. Genetic diagnosis [baseline (At diagnosis)]
4. Electroretinogram (ERG) [baseline (At diagnosis)]
5. Color vision [2 years]
