Retinal DystrophiesSS-HH-OCTNCT06177977
SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
A study testing SS-HH-OCT in people with Retinal Dystrophies, run by Duke University at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 0 to 8 yearsHealthy volunteers can take part
- Conditions the study is for
- Retinal Dystrophies
- What is being tested?
- SS-HH-OCT
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 137 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Mar 2024to 5 Feb 2026
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 8 years
- All sexes
- Healthy volunteers accepted
- Child
Who may be able to join
- 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):
Show all 11Show fewer
- 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
Who cannot join
- 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 locations and contacts
1 site in 1 country.
United States1 site
Duke University Eye Center
Durham, North Carolina, 27710
About this study
Official title: Ultracompact Hand-Held Swept-Source Optical Coherence Tomography (SS-HH-OCT) as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
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.
Read the 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.
- Conditions
- Retinal Dystrophies
- Being tested
- SS-HH-OCT
- Keywords
- Retinal dystrophy, Inherited retinal dystrophy, Early onset retinal dystrophies (EORDS)
- Medical subject headings
- Retinal Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SS-HH-OCTDevice
Also called Swept-source Handheld Ultracompact Optical Coherence Tomography (HH UC 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.
| Study group | Role | What they receive |
|---|---|---|
| Group 1 - Progressive Inherited retinal dystrophy (IRD) | Active comparator | 100 participants with progressive IRD; the most common IRD seen at Duke Clinics. Receives: 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 Receives: 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. Receives: Device: SS-HH-OCT |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with abnormal microanatomy as measured by OCT reading
Presence of abnormal retinal microanatomy as measured by OCT reading
Measured: 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
Measured: Up to 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Dec 2023
- Study start1 Mar 2024
- Primary completion5 Feb 2026
- Study completion5 Feb 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Retinal DystrophiesStudies of the same condition, open and under way.
- More trials run by Duke UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 137 participants (actual)
Sponsor and investigators
- Lead sponsor
- Duke University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Ramiro Maldonado, MD, Principal investigator, Duke University Eye Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06177977
- Sponsor's protocol ID
- Pro00113941
- Acronym
- SS-HH-OCT
- Status last verified
- Sep 2026
- First submitted
- 11 Dec 2023
- Last updated
- 29 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
- Individual data sharing
- No
Publications
Demas N, Estrada C, Morales P, Jacobs M, Kitchens J, Pearson A, Maldonado R. Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population. BMC Med Genomics. 2025 Aug 28;18(1):139. doi: 10.1186/s12920-025-02186-5.
PubMed 40877827
Study at a glance
From the registry record, last updated by the sponsor on 29 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Ultracompact Hand-Held Swept-Source Optical Coherence Tomography (SS-HH-OCT) as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
- ClinicalTrials.gov ID
- NCT06177977
- Acronym / sponsor ID
- SS-HH-OCT / Pro00113941
- Conditions
- Retinal Dystrophies
- Keywords
- Retinal dystrophy, Inherited retinal dystrophy, Early onset retinal dystrophies (EORDS)
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 137 participants (actual)
- Lead sponsor
- Duke UniversityUniversity, hospital or other
- Study start
- 1 Mar 2024 (actual)
- Primary completion
- 5 Feb 2026 (actual)
- Study completion
- 5 Feb 2026 (actual)
- First posted
- 20 Dec 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Group 1 - Progressive Inherited retinal dystrophy (IRD) | Active comparator | Device: SS-HH-OCT100 participants with progressive IRD; the most common IRD seen at Duke Clinics. |
| Group 2 - Non-progressive Inherited Retinal Dystrophy (IRD) | Active comparator | Device: SS-HH-OCT20 participants with non-progressive IRD (n=20), a subset of IRDs that are less frequently referred to Duke Clinics |
| Group 3 - Control participants | Active comparator | Device: SS-HH-OCT50 participants with normal retinal anatomy undergoing anesthesia for strabismus surgery as part of their clinically-indicated care. |
Who may qualify
- Ages
- 0 to 8 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (11 listed)
- 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
- Meets clinical and molecular diagnosis of EORD (clinical determined by PI). Molecular diagnosis criteria:
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SS-HH-OCTAlso: Swept-source Handheld Ultracompact Optical Coherence Tomography (HH UC 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. | Device | Group 1 - Progressive Inherited retinal dystrophy (IRD), Group 2 - Non-progressive Inherited Retinal Dystrophy (IRD), Group 3 - Control participants |
Primary outcome
Number of participants with abnormal microanatomy as measured by OCT reading
Time frame: Up to 24 months
Presence of abnormal retinal microanatomy as measured by OCT reading
Thickness of the participants retina at the fovea and surrounding optic nerve as measured by OCT reading
Time frame: Up to 24 months
Retinal thickness (microns) at the fovea and surrounding optic nerve
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Sep 2026.
- Derived from this study: PubMed 40877827Demas N, Estrada C, Morales P, Jacobs M, Kitchens J, Pearson A, Maldonado R. Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population. BMC Med Genomics. 2025 Aug 28;18(1):139. doi: 10.1186/s12920-025-02186-5.
- Individual participant dataSharing planned: No
Related trials for Retinal Dystrophies
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Active, not recruitingPhase 1/2
Oral Metformin for Treatment of ABCA4 Retinopathy
ABCA4 Retinopathy, Stargardt Disease
RecruitingPhase 1/2
A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
Primary Photoreceptor Disease, Retinitis Pigmentosa (RP)
RecruitingObservational study
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
Familial Mediterranean Fever (FMF), Autoinflammation
RecruitingObservational study
Cell Collection to Study Eye Diseases
Retinal Disease, AMD
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ramiro Maldonado, MD principal investigator
Duke University Eye Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing SS-HH-OCT in people with Retinal Dystrophies, run by Duke University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants with abnormal microanatomy as measured by OCT reading (time frame: Up to 24 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06177977, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Sep 2026; AzTrials last refreshed its copy on 1 Nov 2026.