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

NCT06177977 | Recruiting FDA Device

• 1 other identifier: Pro00113941
• Study Type: interventional
• Target: 80
• Locations: 1 country
• Sites: 1

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

Keywords

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

Outcome Measures

Primary Outcomes (2)

• Number of participants with abnormal microanatomy as measured by OCT reading

  Presence of abnormal retinal microanatomy as measured by OCT reading

  Up to 24 months

• Thickness of the participants retina at the fovea and surrounding optic nerve as measured by OCT reading

  Retinal thickness (microns) at the fovea and surrounding optic nerve

  Up to 24 months

Study Arms (3)

Group 1 - Progressive Inherited retinal dystrophy (IRD)

ACTIVE COMPARATOR

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

Device: SS-HH-OCT

Group 2 - Non-progressive Inherited Retinal Dystrophy (IRD)

ACTIVE COMPARATOR

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

Device: SS-HH-OCT

Group 3 - Control participants

ACTIVE COMPARATOR

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

Device: SS-HH-OCT

Interventions

SS-HH-OCT DEVICE

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.

Also known as: Swept-source Handheld Ultracompact Optical Coherence Tomography (HH UC OCT)

Group 1 - Progressive Inherited retinal dystrophy (IRD); Group 2 - Non-progressive Inherited Retinal Dystrophy (IRD); Group 3 - Control participants

Eligibility Criteria

• Age: 0 Years - 8 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

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

Sponsors & Collaborators

• Duke University: lead

Study Sites (1)

Duke University Eye Center

Durham, North Carolina, 27710, United States

RECRUITING

MeSH Terms

Conditions

Retinal Dystrophies

Condition Hierarchy (Ancestors)

Retinal Degeneration; Retinal Diseases; Eye Diseases

Study Officials

• Ramiro Maldonado, MD

  Duke University Eye Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ramiro Maldonado, MD

CONTACT

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

Michelle N McCall, MCAPM, BA

CONTACT

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

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 11, 2023
• First Posted: December 20, 2023
• Study Start: March 1, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: October 6, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)