Ultracompact Hand-Held Swept-Source Optical Coherence Tomography (SS-HH-OCT) as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 80
- 试验地点
- 2
- 主要终点
- Number of participants with abnormal microanatomy as measured by OCT reading
研究概览
简要总结
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.
详细描述
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).
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 0 Years 至 8 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •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
研究组 & 干预措施
Group 1 - Progressive Inherited retinal dystrophy (IRD)
100 participants with progressive IRD; the most common IRD seen at Duke Clinics.
干预措施: SS-HH-OCT (Device)
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
干预措施: SS-HH-OCT (Device)
Group 3 - Control participants
50 participants with normal retinal anatomy undergoing anesthesia for strabismus surgery as part of their clinically-indicated care.
干预措施: SS-HH-OCT (Device)
结局指标
主要结局
Number of participants with abnormal microanatomy as measured by OCT reading
时间窗: Up to 24 months
Presence of abnormal retinal microanatomy as measured by OCT reading
Thickness of the participants retina at the fovea and surrounding optic nerve as measured by OCT reading
时间窗: Up to 24 months
Retinal thickness (microns) at the fovea and surrounding optic nerve
次要结局
未报告次要终点