NCT06177977

SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)

Ultracompact Hand-Held Swept-Source Optical Coherence Tomography (SS-HH-OCT) as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 80 (estimated)
• Sponsor: Duke University · Academic / Other
• Sex: All
• Age: 0 Years – 8 Years
• Healthy volunteers: Accepted

Summary

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.

Detailed description

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.

Conditions

• Retinal Dystrophies

Interventions

Type	Name	Description
DEVICE	SS-HH-OCT	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.

Timeline

• Start date: 2024-03-01
• Primary completion: 2026-12-01
• Completion: 2026-12-01
• First posted: 2023-12-20
• Last updated: 2025-10-06

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated device study