Recruiting

Observational Study

Sponsor:

Duke University

Code:

NCT06177977

Conditions

Retinal Dystrophies

Eligibility Criteria

Sex: All

Age: 0 - 8

Healthy Volunteers: Accepted

Interventions

SS-HH-OCT

Study Details

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.

Conditions

Retinal Dystrophies

Study ID

NCT06177977

Start date

Mar 1, 2024

Status verified date

Oct, 2025

Completion date

Dec, 2026

Anticipated

Primary completion date

Dec, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 8

Healthy Volunteers: Accepted

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

Enrollment

80 participants

Anticipated

Allocation

Non randomized

Intervention Model

Parallel Assignment

Primary purpose

Other

Interventions and Outcome Measures

Arms

active comparator: Group 1 - Progressive Inherited retinal dystrophy (IRD)

100 participants with progressive IRD; the most common IRD seen at Duke Clinics.

active comparator: Group 2 - Non-progressive Inherited Retinal Dystrophy (IRD)

20 participants with non-progressive IRD (n=20), a subset of IRDs that are less frequently referred to Duke Clinics

active comparator: Group 3 - Control participants

50 participants with normal retinal anatomy undergoing anesthesia for strabismus surgery as part of their clinically-indicated care.

Interventions

SS-HH-OCT

The investigational swept source OCT systems with handheld UC handpieces used in this study were developed at Duke University. OCT systems are non-contact, in-vivo optical imaging technology. The OCT system creates real-time, non-invasive images of ocular microstructure. OCT devices held above or in front of the eye while the sweeping infrared OCT beam scans across the retina. In contrast to the visible light used in clinical eye examinations, because infrared light is not visible, the participant is not disturbed by the light. OCT imaging allows the capture of hundreds of B-scan (cross-sectional) images in seconds. These B-scans are then stacked to create a volume; the stack may be summed up to create a retinal image. These retinal images are similar to images acquired during retinal photography except that they were captured with infrared light and provide depth information. Each volume and B-scan image can be viewed individually to measure and analyze ocular pathology.

Primary outcome measure

  • Number of participants with abnormal microanatomy as measured by OCT reading [ Time Frame: Up to 24 months ]
  • Thickness of the participants retina at the fovea and surrounding optic nerve as measured by OCT reading [ Time Frame: Up to 24 months ]

Central Contacts and Locations

Central contacts

Ramiro Maldonado, MD

(919) 684 5631ramiro.maldonado@duke.edu

Michelle N McCall, MCAPM, BA

(919) 684-0544michelle.mccall@duke.edu

Locations

Duke University Eye Center

Recruiting

Durham, North Carolina, United States, 27710

Contacts

Michelle McCall

919-684-0544mccal023@mc.duke.edu

Neeru Sarin

9196685641neeru.sarin@duke.edu

Principal Investigator:

Ramiro Maldonado, MD

More Information

Sponsor

Duke University

Last update posted

Oct 6, 2025

Last verified

Oct, 2025

Keywords

  • Retinal dystrophy
  • Inherited retinal dystrophy
  • Early onset retinal dystrophies (EORDS)

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Duke University on 2025-10-06.