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

Recruiting now · Not applicable

Conditions studied: Retinal Dystrophies

In brief

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.

Key facts

Study ID

NCT06177977

Run by

Duke University

People needed

80

Starts

2024-03-01

Expected to finish

2026-12-01

Last updated by the study team

2025-10-06

Who can join

Age: any, up to 8. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• Duke University Eye Center — Durham, North Carolina, United States (enrolling)

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.