Using advanced imaging to diagnose early-onset retinal dystrophies in children

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

This study is testing a new imaging technique to help doctors spot early signs of eye problems in young children with inherited retinal diseases.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 80 (estimated)
• Ages: 0 Years to 8 Years
• Sex: All
• Sponsor: Duke University (Academic / other)
• Locations: 1 site (Durham, North Carolina)
• Trial ID: NCT06177977 on ClinicalTrials.gov

What this trial studies

This observational study aims to utilize a novel imaging system, SS-HH-OCT, to perform high-resolution retinal imaging in neonates, infants, and children to identify signs of photoreceptor development and degeneration associated with early-onset inherited retinal dystrophies (EORDs). Participants aged 0 to 8 years will undergo imaging during clinically indicated eye examinations. The study seeks to establish reference standards and endpoints for future clinical trials by characterizing biomarkers of retinal degeneration and optimizing imaging protocols. The ultimate goal is to enhance early diagnosis and monitoring of EORDs in pediatric patients.

Who should consider this trial

Good fit: Ideal candidates for this study are children aged 0 to 8 years with a clinical and molecular diagnosis of early-onset inherited retinal dystrophies.

Not a fit: Patients with ocular media opacities that prevent imaging or those with refractive errors greater than 6 diopters may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to earlier diagnosis and better monitoring of retinal dystrophies in children, potentially improving treatment outcomes.

How similar studies have performed: While this approach is innovative, similar studies utilizing advanced imaging techniques have shown promise in other areas of retinal research.

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

Where this trial is running

Durham, North Carolina

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

Study contacts

• Principal investigator: Ramiro Maldonado, MD — Duke University Eye Center
• Study coordinator: Ramiro Maldonado, MD

Conditions Retinal Dystrophies; Retinal dystrophy; Inherited retinal dystrophy; Early onset retinal dystrophies