Status:
RECRUITING
SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
Lead Sponsor:
Duke University
Conditions:
Retinal Dystrophies
Eligibility:
All Genders
Up to 8 years
Phase:
NA
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 developm...
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 defec...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
March 1 2024
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 1 2026
Estimated Enrollment :
80 Patients enrolled
Trial Details
Trial ID
NCT06177977
Start Date
March 1 2024
End Date
December 1 2026
Last Update
October 6 2025
Active Locations (1)
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1
Duke University Eye Center
Durham, North Carolina, United States, 27710