Imaging for Retinal Dystrophy

(SS-HH-OCT Trial)

Overseen By Ramiro Maldonado, MD

Age: < 18

Sex: Any

Trial Phase: Academic

Sponsor: Duke University

Disqualifiers: Refractive error >6 diopters, Glaucoma, Uveitis, Neurologic conditions, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

80 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

The trial aims to explore a new imaging system, the Ultracompact Hand-held Swept-Source Optical Coherence Tomography (SS-HH-OCT), to help diagnose and monitor inherited retinal dystrophies (eye disorders affecting the retina) in young children. High-resolution imaging will track how the retina's light-sensitive cells develop or break down over time. Participants will either have a progressive or non-progressive form of retinal dystrophy or be healthy controls. Children under nine years old with a confirmed retinal condition or normal eye anatomy might be suitable candidates. The goal is to set new standards for early diagnosis and treatment monitoring.

As an unphased trial, this study offers a unique opportunity to contribute to groundbreaking research in early diagnosis and monitoring of retinal conditions in children.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It is best to discuss this with the trial coordinators or your doctor.

What prior data suggests that this imaging system is safe for children?

Previous studies have shown that SS-HH-OCT safely and effectively captures clear images of the retina in children with early eye conditions. Research indicates that most children tolerate this imaging method well, experiencing minimal discomfort or adverse reactions. As a non-invasive imaging system, it does not involve surgery or entering the body, making it a low-risk procedure. Although this technology is new for early diagnosis of eye diseases, studies conducted so far have reported no serious side effects. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the SS-HH-OCT imaging technique for retinal dystrophy because it offers a cutting-edge method for detailed visualization of retinal structures. Unlike current treatments that primarily focus on managing symptoms or slowing disease progression, SS-HH-OCT provides a non-invasive way to enhance diagnosis and monitor retinal changes over time. This technology could significantly improve our understanding of both progressive and non-progressive forms of inherited retinal dystrophy (IRD), leading to more personalized and effective care strategies. Additionally, the ability to accurately track disease progression in a diverse range of patients, including those with normal retinal anatomy, could revolutionize how clinicians approach retinal health management.

What evidence suggests that this imaging system is effective for retinal dystrophy?

Research shows that SS-HH-OCT, the imaging system used in this trial, is a promising tool for diagnosing and monitoring early-onset retinal dystrophies (EORDs) in children. This system captures clear images of the retina, crucial for detecting changes in the eye's light-sensitive cells. Studies have found that SS-HH-OCT works well with children, making it a potential breakthrough for early diagnosis. By providing detailed retinal images, it helps doctors understand disease progression, which is vital for developing future treatments. Participants in this trial will be divided into groups based on the type of retinal dystrophy or normal retinal anatomy to assess SS-HH-OCT's effectiveness in different contexts. ^{1 2 6 7 8}

Who Is on the Research Team?

Ramiro Maldonado, MD

Principal Investigator

Duke University Eye Center

Are You a Good Fit for This Trial?

This trial is for neonates, infants, and children showing signs of early-onset inherited retinal dystrophies (EORDs). Participants will be included based on their need for clinically-indicated eye exams or procedures related to EORDs. Specific inclusion and exclusion criteria details are not provided.

Inclusion Criteria

I am under 9 years old.

My eyes do not have any retinal problems.

I have a genetic condition confirmed by specific gene changes.

Exclusion Criteria

Refractive error higher than 6.00 diopters

Does not meet molecular diagnosis criteria (For EORD participants (Groups 1-2))

I do not have eye conditions like glaucoma or uveitis that could affect study results.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Imaging

Participants undergo SS-HH-OCT imaging during clinically-indicated eye examinations or procedures to identify signs of photoreceptor development and degeneration.

Up to 24 months

Visits coincide with clinically-indicated eye examinations

Follow-up

Participants are monitored for safety and effectiveness after imaging procedures, with data collected for future studies.

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• SS-HH-OCT

Trial Overview The study is testing the effectiveness of a new high-resolution imaging system called SS-HH-OCT in diagnosing and monitoring retinal dystrophy in young patients. It's an observational study where images are taken during routine eye checks.

How Is the Trial Designed?

Group I: Group 2 - Non-progressive Inherited Retinal Dystrophy (IRD) Active Control 1 Intervention

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

Group II: Group 1 - Progressive Inherited retinal dystrophy (IRD) Active Control 1 Intervention

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

Group III: Group 3 - Control participants Active Control 1 Intervention

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

Who Is Running the Clinical Trial?

Duke University

Lead Sponsor

Trials

2,495

Recruited

5,912,000+

Published Research Related to This Trial

Ultrahigh resolution optical coherence tomography (UHR OCT) effectively visualizes intraretinal changes in macular dystrophies, revealing significant differences in photoreceptor layer integrity between adult-onset foveomacular vitelliform dystrophy (AOFVD) and Stargardt's disease (SD).

Patients with AOFVD showed mostly intact photoreceptor layers and a central foveal thickness of 142 micrometers, while those with SD exhibited significant degeneration and a reduced central foveal thickness of 94 micrometers, indicating the potential of UHR OCT for monitoring disease progression.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Ultrahigh resolution optical coherence tomography in macular dystrophy. Wirtitsch, MG., Ergun, E., Hermann, B., et al.[2007]

High-resolution spectral-domain optical coherence tomography (HR-SD-OCT) is an effective tool for monitoring photoreceptor degeneration in live mouse models, allowing for precise measurement of retinal layer thickness and photoreceptor vitality.

The technique enables real-time visualization and assessment of subretinal injections, ensuring accurate delivery of therapeutic agents like adeno-associated virus (AAV) or nanoparticles, which is crucial for evaluating their efficacy and potential toxicity in preclinical studies.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research. Butler, MC., Sullivan, JM.[2020]

A study of 15 patients with cone dystrophy identified four categories of outer retinal changes using spectral-domain optical coherence tomography (SD-OCT), highlighting the varying degrees of structural abnormalities in the retina.

The presence of normal retinal structures in younger patients (category 0) suggests that electrophysiological tests are more effective than imaging for early diagnosis, emphasizing the need for comprehensive assessments in cone dystrophy.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography. Cho, SC., Woo, SJ., Park, KH., et al.[2022]

In a study of 16 pediatric patients with Usher syndrome type 1 (USH1), significant retinal alterations were detected using swept-source optical coherence tomography (SS-OCT), particularly in the outer retinal layers, which may impact visual acuity.

The most common abnormalities included disruptions in the external limiting membrane and ellipsoid zone of photoreceptors, with these disruptions being independently associated with decreased best-corrected visual acuity (BCVA), highlighting the importance of monitoring photoreceptor health in USH1 patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene. Subirà, O., Català-Mora, J., Díaz-Cascajosa, J., et al.[2022]

The handheld swept-source optical coherence tomography (OCT) system features a groundbreaking 105° field of view (FOV), the widest achieved in portable non-contact retinal imaging, which enhances the ability to visualize retinal diseases.

This system's spiral scanning pattern improves scanning efficiency and allows for real-time visualization, making it particularly useful for evaluating conditions like retinopathy of prematurity that affect the peripheral retina.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

105° field of view non-contact handheld swept-source optical coherence tomography. Ni, S., Nguyen, TP., Ng, R., et al.[2023]

In a study involving 14 patients with various types of retinal dystrophy and 7 normal controls, high-resolution imaging revealed a significant reduction in both foveal and macular retinal thickness in dystrophy patients compared to controls, indicating structural changes associated with the disease.

Specifically, the outer retinal layer (ORL) thickness was severely decreased by 45% in retinal dystrophy patients, while the inner retinal layer (IRL) showed a smaller, non-significant decrease of 11%, highlighting the more pronounced impact of retinal dystrophy on the outer layers of the retina.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A pilot study of Fourier-domain optical coherence tomography of retinal dystrophy patients. Lim, JI., Tan, O., Fawzi, AA., et al.[2022]

Fourier domain optical coherence tomography (FD OCT) effectively allows for noninvasive imaging of retinal structures in Rs1h-knockout mice, a model for X-linked juvenile retinoschisis, enabling the identification of retinal layers and measurement of their thickness.

The study revealed significant retinal degeneration, with approximately 30% loss of the outer nuclear layer (ONL) by 2 months of age in Rs1h-knockout mice, highlighting the potential of FD OCT for monitoring retinal health and disease progression.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. Xu, J., Molday, LL., Molday, RS., et al.[2022]

A new prototype retinal swept-source OCT system was developed with a long working distance of 350 mm, making it suitable for imaging young and autistic children who may be uncomfortable with traditional imaging methods.

The system uses a compact 2f retinal scanning configuration, which reduces the number of optical elements and overall size, allowing for effective imaging in pediatric patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Long working distance OCT with a compact 2f retinal scanning configuration for pediatric imaging. Carrasco-Zevallos, OM., Qian, R., Gahm, N., et al.[2022]

The newly developed handheld swept source optical coherence tomography (SS-OCT) device offers high-speed imaging at 350 kHz with 10 µm axial resolution, making it effective for capturing detailed retinal images in just 1.4 seconds.

This technology not only allows for early detection of retinal diseases but also expands the potential for use in various settings beyond traditional clinics, such as pediatrics and military medicine, enhancing accessibility to eye care.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Handheld ultrahigh speed swept source optical coherence tomography instrument using a MEMS scanning mirror. Lu, CD., Kraus, MF., Potsaid, B., et al.[2022]

Citations

1. iovs.arvojournals.org iovs.arvojournals.org/article.aspx?articleid=2805897

Feasibility of Ultracompact Hand-Held Swept-Source Optical ... HH-SS-OCT demonstrated to be feasible in capturing high-quality scans among the majority of pediatric patients with EORDs.

2. scholars.duke.edu scholars.duke.edu/individual/gra282752

Scholars@Duke grant: Ultracompact Hand-held Swept ... Ultracompact Hand-held Swept-Source Hand-Held Optical Coherence Tomography (SS-HH-OCT) as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs).

3. medschool.duke.edu medschool.duke.edu/profile/ramiro-maldonado

Ramiro Maldonado Ultracompact Hand-held Swept-Source Hand-Held Optical Coherence Tomography (SS-HH-OCT) as a Novel Diagnostic Modality for Early-Onset ...

4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC9279625/

The Development and Clinical Application of Innovative ... The purpose of this review is to describe the most recent advances in eye imaging and explain how new technologies and imaging methods can be utilized in a ...

5. fightingblindness.org fightingblindness.org/funded-grants-2025

Funded Grants FY25 “Ultracompact Hand-held Swept-Source Optical Coherence Tomography as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies.” Dr. Maldonado is ...

6. isgedr.com isgedr.com/

ISGEDR website | International Society for Genetic Eye ... Macular dystrophy, what is the missing puzzle piece? Fyqah Almahmoudi, MD King Fahd Armed Forces Hospital, Saudi Arabia. 9:20, Coffee Break ...

7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC12392666/

Inherited retinal diseases in Kentucky: diagnostic yield, gene ... The diagnostic yield of genetic testing for rod-cone dystrophy (RCD) cases was 83.89%. The five most common genetic testing confirmed diagnoses ...

8. stage.webhealthnetwork.com stage.webhealthnetwork.com/clinicaltrials-details.php?id=325544

Clinical Trial: SS-HH-OCT as a Novel Diagnostic Modality for ... 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 ...