NCT06177977 SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
| NCT ID | NCT06177977 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Duke University |
| Condition | Retinal Dystrophies |
| Study Type | INTERVENTIONAL |
| Enrollment | 80 participants |
| Start Date | 2024-03-01 |
| Primary Completion | 2026-12 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
This trial targets 80 participants in total. It began in 2024-03-01 with a primary completion date of 2026-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Eligibility Criteria
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
Contact & Investigator
Ramiro Maldonado, MD
PRINCIPAL INVESTIGATOR
Duke University Eye Center
Frequently Asked Questions
Who can join the NCT06177977 clinical trial?
This trial is open to participants of all sexes, aged 0 Years or older, up to 8 Years, studying Retinal Dystrophies. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06177977 currently recruiting?
Yes, NCT06177977 is actively recruiting participants. Contact the research team at ramiro.maldonado@duke.edu for enrollment information.
Where is the NCT06177977 trial being conducted?
This trial is being conducted at Durham, United States.
Who is sponsoring the NCT06177977 clinical trial?
NCT06177977 is sponsored by Duke University. The principal investigator is Ramiro Maldonado, MD at Duke University Eye Center. The trial plans to enroll 80 participants.