Clinical Evaluation of Individuals With X-linked Retinitis Pigmentosa (XLRP) Caused by RPGR-ORF15 Mutations
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 14
- 试验地点
- 3
- 主要终点
- Disease progression in subjects with XLRP
研究概览
简要总结
The purpose of this study is to evaluate subjects with X-linked retinitis pigmentosa caused by RPGR-ORF15 mutations in a clinical setting to fully characterize their condition, measure testing variability, and estimate rates of progression of clinical parameters.
详细描述
Males with a clinical diagnosis of X-linked retinitis pigmentosa (XLRP) caused by RPGR-ORF15 mutations will be asked to provide informed consent and will have a single blood or saliva sample obtained for DNA sequence analysis of genes known to cause XLRP, including the RPGR-ORF15 gene. All participants will be informed of the results of testing for these mutations. Those with qualifying mutations in the RPGR-ORF15 gene will be evaluated every 6 months for 3 years using a variety of non-invasive visual function tests to more fully characterize their clinical condition. Testing will include routine ophthalmic examinations and tests of visual acuity, perimetry, OCT, fundus imaging, and completion of quality of life questionnaires.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Years 至 —（Child, Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Male subjects with a clinical diagnosis of XLRP and a documented molecular diagnosis from a CLIA-certified laboratory of mutation within the ORF15 exon of the RPGR gene;
- •At least 6 years of age;
- •Willing and able to perform study procedures;
- •Signed informed consent(s) obtained (and child assent where applicable).
排除标准
- •Pre-existing eye conditions that would interfere with interpretation of study endpoints (e.g. glaucoma, corneal or lenticular opacities, diabetic retinopathy, history of retinal detachment);
- •Participating in an interventional research study of drugs or devices for treatment of XLRP or other retinal diseases;
- •Monoocular participants
- •Any condition which leads the investigator to believe that the participant cannot comply with the protocol requirements or that may place the participant at an unacceptable risk for participation.
结局指标
主要结局
Disease progression in subjects with XLRP
时间窗: Day 0 - Month 36
次要结局
- Disease progression using visual acuity testing(Day 0 - Month 36)
- Disease progression using perimetry(Day 0 - Month 36)
- Disease progression using OCT(Day 0 - Month 36)
- Disease progression using electroretinography(Day 0 - Month 36)
- Disease progression using the National Eye Institute Visual Functioning Questionnaire-25 (VFQ-25) quality of life questionnaire(Day 0 - Month 36)