SS-HH-OCT 作为早发性视网膜营养不良 (EORD) 的新型诊断方式 (SS-HH-OCT)
超紧凑手持式扫描源光学相干断层扫描 (SS-HH-OCT) 作为早发性视网膜营养不良 (EORD) 的新型诊断方式
The goal of this observational study is to utilize a novel imaging system designed for high-resolution retinal imaging of neonates, infants and children to identify the signs of photoreceptor development and degeneration in children with early-onset inherited retinal dystrophies (EORDs). Participants will have research imaging with SS-HH-OCT at the time of clinically-indicated eye examinations or procedures. The investigators aim to establish the basis for utilization of OCT imaging in earlier diagnosis and disease monitoring in children with EORDs. This work will set data reference standards and IRD endpoints that can be used in clinical trials.
研究概览
详细说明
What photoreceptor degenerative changes take place in children with early-onset inherited retinal dystrophies, and how is photoreceptor development in this patient population affected by genetic defects?
Our novel investigational SS-HH-OCT system features high scanning speed, long laser wavelength, and an ergonomic light-weight handheld design. The investigators hypothesize that imaging with this system will enable us to characterize early-onset retinal dystrophies (EORD)-associated PDCs in young children. To this end, the investigators propose the following specific aims:
Specific Aim 1: Optimize and demonstrate reproducibility of SS-HH-OCT imaging protocols to visualize photoreceptor development and degeneration in children with and without EORDs.
Specific Aim 2: Use SS-HH-OCT parameters to characterize biomarkers of foveal photoreceptor development and degeneration in children with EORDs versus healthy controls.
A total of 80 participants will be enrolled in this study. Participants' age between 0 through 8 years (<9 years).
For children with EORD, successful completion of this study will result in 1) a framework for reproducible OCT imaging; 2) characterization of biomarkers of retinal degeneration; 3) establishment of reference data by genetic variants 4) insights into foveal development. Additionally, this study will set pilot data of structure-function data and timeline of photoreceptor degeneration for future NIH funded studies.
研究类型
注册 (实际的)
阶段
- 不适用
联系人和位置
学习地点
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North Carolina
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Durham、North Carolina、美国、27710
- Duke University Eye Center
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参与标准
资格标准
适合学习的年龄
接受健康志愿者
有资格学习的性别
描述
Inclusion Criteria:
For all participants:
- Participant's age is between 0 through 8 years (<9 years)
- Parent/legal guardian gives consents for the imaging study
- No ocular media opacities that could preclude imaging
- Refractive error equal or lower than 6 diopters
For EORD participants (Groups 1-2):
Meets clinical and molecular diagnosis of EORD (clinical determined by PI). Molecular diagnosis criteria:
- Autosomal dominant gene: One pathogenic or likely pathogenic variant that meets the clinical phenotype
- Autosomal recessive gene: two pathogenic or likely pathogenic variants in-trans which meet the phenotype.
- X-linked gene: one pathogenic or likely pathogenic variant which meets the phenotype.
For Controls (Group 3): No evidence of retinal pathology
Exclusion Criteria:
For all participants:
- Parent/legal guardian unwilling or unable to provide consent
- Refractive error higher than 6.00 diopters
- Participant has media opacities that preclude imaging
- Any non-IRD ocular condition that confound results interpretation such as glaucoma, uveitis, neurologic conditions affecting the optic nerve, etc.
For EORD participants (Groups 1-2): Does not meet molecular diagnosis criteria
For Controls (Group 3): Any suspicion of IRD
学习计划
研究是如何设计的？
设计细节
- 主要用途：其他
- 分配：非随机化
- 介入模型：并行分配
- 屏蔽：无（打开标签）
武器和干预
参与者组/臂 |
干预/治疗 |
|---|---|
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有源比较器：Group 1 - Progressive Inherited retinal dystrophy (IRD)
100 participants with progressive IRD; the most common IRD seen at Duke Clinics. |
The investigational swept source OCT systems with handheld UC handpieces used in this study were developed at Duke University. OCT systems are non-contact, in-vivo optical imaging technology. The OCT system creates real-time, non-invasive images of ocular microstructure. OCT devices held above or in front of the eye while the sweeping infrared OCT beam scans across the retina. In contrast to the visible light used in clinical eye examinations, because infrared light is not visible, the participant is not disturbed by the light. OCT imaging allows the capture of hundreds of B-scan (cross-sectional) images in seconds. These B-scans are then stacked to create a volume; the stack may be summed up to create a retinal image. These retinal images are similar to images acquired during retinal photography except that they were captured with infrared light and provide depth information. Each volume and B-scan image can be viewed individually to measure and analyze ocular pathology.
其他名称：
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有源比较器：Group 2 - Non-progressive Inherited Retinal Dystrophy (IRD)
20 participants with non-progressive IRD (n=20), a subset of IRDs that are less frequently referred to Duke Clinics |
The investigational swept source OCT systems with handheld UC handpieces used in this study were developed at Duke University. OCT systems are non-contact, in-vivo optical imaging technology. The OCT system creates real-time, non-invasive images of ocular microstructure. OCT devices held above or in front of the eye while the sweeping infrared OCT beam scans across the retina. In contrast to the visible light used in clinical eye examinations, because infrared light is not visible, the participant is not disturbed by the light. OCT imaging allows the capture of hundreds of B-scan (cross-sectional) images in seconds. These B-scans are then stacked to create a volume; the stack may be summed up to create a retinal image. These retinal images are similar to images acquired during retinal photography except that they were captured with infrared light and provide depth information. Each volume and B-scan image can be viewed individually to measure and analyze ocular pathology.
其他名称：
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有源比较器：Group 3 - Control participants
50 participants with normal retinal anatomy undergoing anesthesia for strabismus surgery as part of their clinically-indicated care. |
The investigational swept source OCT systems with handheld UC handpieces used in this study were developed at Duke University. OCT systems are non-contact, in-vivo optical imaging technology. The OCT system creates real-time, non-invasive images of ocular microstructure. OCT devices held above or in front of the eye while the sweeping infrared OCT beam scans across the retina. In contrast to the visible light used in clinical eye examinations, because infrared light is not visible, the participant is not disturbed by the light. OCT imaging allows the capture of hundreds of B-scan (cross-sectional) images in seconds. These B-scans are then stacked to create a volume; the stack may be summed up to create a retinal image. These retinal images are similar to images acquired during retinal photography except that they were captured with infrared light and provide depth information. Each volume and B-scan image can be viewed individually to measure and analyze ocular pathology.
其他名称：
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研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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Number of participants with abnormal microanatomy as measured by OCT reading
大体时间：Up to 24 months
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Presence of abnormal retinal microanatomy as measured by OCT reading |
Up to 24 months
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Thickness of the participants retina at the fovea and surrounding optic nerve as measured by OCT reading
大体时间：Up to 24 months
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Retinal thickness (microns) at the fovea and surrounding optic nerve |
Up to 24 months
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合作者和调查者
调查人员
- 首席研究员：Ramiro Maldonado, MD、Duke University Eye Center
出版物和有用的链接
研究记录日期
研究主要日期
学习开始 (实际的)
初级完成 (实际的)
研究完成 (实际的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (实际的)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
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与本研究相关的术语
计划个人参与者数据 (IPD)
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