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

Not Applicable

Recruiting

• Conditions: Retinal Dystrophies
• Interventions: Device: SS-HH-OCT

• Registration Number: NCT06177977
• Lead Sponsor: Duke University

Brief 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.

Study Timeline

• Study First Submitted: 2023-12-11
• Study First Submitted QC: 2023-12-11
• Study First Posted: 2023-12-20
• Study Start: 2024-03-01
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-13
• Last Update Posted: 2025-03-17
• Primary Completion: 2026-12
• Study Completion: 2026-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 80

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Group 3 - Control participants	SS-HH-OCT	10 participants with normal retinal anatomy undergoing anesthesia for strabismus surgery as part of their clinically-indicated care.
Group 1 - Progressive Inherited retinal dystrophy (IRD)	SS-HH-OCT	50 participants with progressive IRD; the most common IRD seen at Duke Clinics.
Group 2 - Non-progressive Inherited Retinal Dystrophy (IRD)	SS-HH-OCT	20 participants with non-progressive IRD (n=20), a subset of IRDs that are less frequently referred to Duke Clinics

Primary Outcome Measures

Name	Time	Method
Number of participants with abnormal microanatomy as measured by OCT reading	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	Up to 24 months	Retinal thickness (microns) at the fovea and surrounding optic nerve

Trial Locations

Locations (1)

Duke University Eye Center; 🇺🇸 Durham, North Carolina, United States