Clinical and Genetic Characterization of Individuals With Achromatopsia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 56
- 试验地点
- 5
- 主要终点
- Visual acuity
研究概览
简要总结
The purpose of this study is to identify individuals with achromatopsia caused by mutations in the CNGB3 gene and characterize their clinical condition using several tests of visual function every 6 months for up to 1.5 years.
详细描述
Individuals with a clinical diagnosis of achromatopsia will be asked to provide informed consent and will then have a single 5 mL blood sample drawn for DNA sequence analysis of genes known to cause achromatopsia, including the CNGB3 gene. All participants will be informed of the results of testing for these mutations. Those with mutations in both alleles of the CNGB3 gene will be evaluated every 6 months for up to 1.5 years by using a variety of non-invasive visual function tests to more fully characterize their clinical condition. This testing will include routine ophthalmic examination and tests of visual acuity, color vision, reading speed, perimetry, nystagmus, light sensitivity, optical coherence tomography, adaptive optics retinal imaging, electroretinography, fundus photography and completion of a quality of life questionnaire.
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
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of achromatopsia (screening portion of study);
- •Molecular confirmation of mutations in the CNGB3 gene (main portion of study);
- •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
- •Not able to have a blood sample drawn;
- •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 achromatopsia or other retinal diseases;
- •Use of medications that may impair color vision (e.g. hydroxychloroquine);
- •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
Visual acuity
时间窗: Annually for up to 1.5 years
Visual acuity will be measured by EVA or ETDRS methods
次要结局
- Color Vision(annually for up to 1.5 years)
- Adaptive Optics Retinal Imaging(annually for up to 1.5 years)