Clinical trial NCT06177977: SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
Official title: Ultracompact Hand-Held Swept-Source Optical Coherence Tomography (SS-HH-OCT) as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Retinal Dystrophies
Keywords: Retinal dystrophy
Inherited retinal dystrophy
Early onset retinal dystrophies (EORDS)
Lead sponsor: Duke University
Sponsor class: OTHER
First posted: 2023-12-20
Enrollment: 80
Sex: ALL
Minimum age (years): 0
Maximum age (years): 8
Standard ages: CHILD
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: OTHER

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.

Detailed 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.

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

Primary outcomes:
measure: Number of participants with abnormal microanatomy as measured by OCT reading
timeFrame: Up to 24 months
measure: Thickness of the participants retina at the fovea and surrounding optic nerve as measured by OCT reading
timeFrame: Up to 24 months
Secondary outcomes:
Other outcomes:
Locations:
city: Durham
country: United States
facility: Duke University Eye Center
state: North Carolina
Study officials:
affiliation: Duke University Eye Center
name: Ramiro Maldonado, MD
role: PRINCIPAL_INVESTIGATOR
References: