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

Duke University

Status: Enrolling

Conditions: Retinal Dystrophies

Treatments: Device: SS-HH-OCT

Study type: Interventional

Funder types: Other

Identifiers

NCT06177977

Pro00113941

Details and patient eligibility

About

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.

Full 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 defects?

Our novel investigational SS-HH-OCT system features high scanning speed, long laser wavelength, and an ergonomic light-weight handheld design. The investigators hypothesize that imaging with this system will enable us to characterize early-onset retinal dystrophies (EORD)-associated PDCs in young children. To this end, the investigators propose the following specific aims:

Specific Aim 1: Optimize and demonstrate reproducibility of SS-HH-OCT imaging protocols to visualize photoreceptor development and degeneration in children with and without EORDs.

Specific Aim 2: Use SS-HH-OCT parameters to characterize biomarkers of foveal photoreceptor development and degeneration in children with EORDs versus healthy controls.

A total of 80 participants will be enrolled in this study. Participants' age between 0 through 8 years (<9 years).

For children with EORD, successful completion of this study will result in 1) a framework for reproducible OCT imaging; 2) characterization of biomarkers of retinal degeneration; 3) establishment of reference data by genetic variants 4) insights into foveal development. Additionally, this study will set pilot data of structure-function data and timeline of photoreceptor degeneration for future NIH funded studies.

Enrollment: 80 estimated patients

Sex: All

Ages: Under 8 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Other

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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80 participants in 3 patient groups

Group 1 - Progressive Inherited retinal dystrophy (IRD)

Active Comparator group

Description:

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

Treatment:

Device: SS-HH-OCT

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

Active Comparator group

Description:

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

Treatment:

Device: SS-HH-OCT

Group 3 - Control participants

Active Comparator group

Description:

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

Treatment:

Device: SS-HH-OCT