Genetic DiseaseNCT05386134
Adaptive Optics Retinal Imaging in Inherited and Acquired Retinal Disorders
An observational study of Genetic Disease and Inherited Disease, run by The Hospital for Sick Children at 1 site in Canada.
Trial summary
This is a Prospective Observational study. The aim of the study is to understand the underlying photoreceptor, retinal pigment epithelium or retinal vascular aberrations in inherited and acquired retinal disorders. Read more about this study
- Who is it for?
- Ages 5 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Genetic Disease, Inherited Disease
- What is being tested?
- Adaptive Optics Retinal Camera
- Type of treatment
- Medical device
- How many people
- 200 participants
- Where
- 1 siteCanada
- Study dates
- 13 Jun 2022to 13 Jun 2033
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 5 to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Initial contact with all study participants will be by their regular ophthalmologist during a regular clinic visit. All study participants will be explained the study objectives and procedures in detail by an investigator not involved in their direct care. Patients with retinal dystrophies will be recruited through the Ocular Genetics Program (OGP) at the Hospital for Sick Children. Patients with acquired retinal disorders will be recruited from the pediatric retina clinic at the Hospital for Sick Children.
Who may be able to join
- Consent provided
- Aged 5 - 70 years
- Diagnosed with well documented retinal disorder
- Control group Inclusion Criteria:
- Subjects aged 5 years - 70 years with normal eye examination.
- Patients with strabismus and otherwise normal visual acuity and eye examination
- Patients with unilateral eye diseases such as cataract, with a normal eye exam in the fellow eye.
Who cannot join
- Inability of the subject to maintain a stable position while seated
- Uncontrolled nystagmus, trembling or movements of the eyes or the head
- Presence of cataract or any opacity in the front of the eye that obscures retinal imaging
- Any general disease such neurological disease which could affect vision and the retina.
- History of previous uveitis, glaucoma, previous intra-ocular surgery or photodynamic therapy
- High refractive errors (> +15D or < -15D) that cannot be corrected by the adaptive optics system.
- Patients who have a history of photosensitivity or take any medicine that cause photosensitivity as a side effect
- Patients who are aphakic after cataract surgery
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Canada1 site, 1 recruiting
- Recruiting
The Hospital for Sick Children
Toronto, Ontario, M5G 1X8
Ajoy Dr Vincent, MS
About this study
Official title: Adaptive Optics Imaging in Retinal Disorders
This is a Prospective Observational study. The aim of the study is to understand the underlying photoreceptor, retinal pigment epithelium or retinal vascular aberrations in inherited and acquired retinal disorders. The study would use adaptive optics (AO) technology to assist in-vivo visualization of these retinal structures and ascertain changes from normal. Further, by using the AO imaging in patients before and after treatments, this study aims to better understand the effect of various interventions and develop AO as an outcome measure in various retinal disorders.
Read the detailed description
The investigators plan to recruit approximately 200 participants (approximately 175 study subjects and 25 Control group) having an inherited or acquired retinal disease. The study participants will be screened based on Inclusion and exclusion criteria. Eligible study and control participants will be consented prior to conducting any study related procedures. For the Data Collection, patient information including previous eye examination, past medical history and family history will be obtained from hospital charts. Patients will be asked to return for a follow-up visit at 6-months and at 1 year.
The Objectives of the study include:
- To test AO imaging in patients with well characterized genetic and non-genetic diseases in an attempt to - To better understand the underlying photoreceptor, retinal pigment epithelium or retinal vascular aberrations - To utilize the AO imaging in patients before and after treatments to better understand the effect of the intervention and develop AO as an outcome measure in various retinal disorders
- To test AO in healthy controls to serve as internal controls Patients with inherited or acquired retinal disease who satisfy the inclusion criteria and those who consent for the study will be screened for the study. Study participants and participants from the cohort group will then have a 6 month or annual follow-up visit as per the study protocol.
The primary outcome measures will be the quantify cone photoreceptors (density and spacing), retinal pigment epithelium density and retinal blood vascular flow in retinal disorders and compare it with controls. This will be calculated using software algorithms incorporated within AO machine (rtx1). Patient data will be compared with age-matched control data.
The secondary outcome measure would be to ascertain if using rtx1, the rate of progression of retinal disease or treatment effect can be quantified. To accomplish this, areas that were imaged at baseline will be reimaged at the follow up visits. Since the rtx1 machine has the capability to identify exact retinal location between the visits, these follow up images will be compared to baseline images to determine rate of disease progression or effectiveness of treatment.
- Conditions
- Genetic Disease, Inherited Disease
- Being tested
- Adaptive Optics Retinal Camera
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Adaptive Optics Retinal CameraDevice
The rtx1 is a non-invasive device functions without making contact with the eye. The fundus of the patient's eye is illuminated with the IR light emitted from the illumination optical system. The device is comprised of an optoelectronic sensor (OES) that measures the optical defects, software that calculates the necessary corrections and a deformable mirror (DM) that constantly adapts its shape to restore the image's clarity. The digital camera, which is built into the instrument, receives the images and then the images are recorded in the computer hard disk. The AO image software registers and averages the captured image series in order to reduce noise and produce a final enhanced image. The rtx1 integrates AO technology in a flood illumination imaging system and enables visualizing the retina with a high transverse optical resolution of 250 line-pairs per millimeter.
| Study group | Role | What they receive |
|---|---|---|
| Study Subjects | Approximately 175 Study Subjects Receives: Device: Adaptive Optics Retinal Camera | |
| Control Group | Approximately 25 Control group Receives: Device: Adaptive Optics Retinal Camera |
What is being measured
The primary outcome is the main question the study is designed to answer.
To measure the change in Quantification of cone receptors
The primary outcome measures will be to measure the change in the quantification of cone photoreceptors (density and spacing).This will be calculated using software algorithms incorporated within AO machine (rtx1).
Measured: Primary outcome will be measured at Baseline, 6-months ,1 year. The patient data will be compared to the control data.
To measure the change in Quantification of the retinal pigment epithelium density
The primary outcome measure will be to measure the change in quantification of the retinal pigment epithelium density. This will be calculated using software algorithms incorporated within AO machine (rtx1).
Measured: Primary outcomes will be measured at Baseline, 6-months ,1 year. The patient data will be compared to the control data.
To measure the change in Quantification of retinal blood vascular flow in retinal disorders
The primary outcome measures the wall-to-lumen ratio (WLR) and the vascular wall cross-sectional area (WSCA) of retinal arterioles.
Measured: Primary outcomes will be measured at Baseline, 6-months ,1 year. The patient data will be compared to the control data.
Secondary outcomes (1)
To measure the change and rate of progression of retinal disease
The secondary outcome measure would be to ascertain if using rtx1, the rate of progression of retinal disease or treatment effect can be quantified. To accomplish this, areas that were imaged at baseline will be reimaged at the follow up visits. Since the rtx1 machine has the capability to identify exact retinal location between the visits, these follow up images will be compared to baseline images to determine rate of disease progression or effectiveness of treatment.
Measured: Secondary outcomes will be measured at follow-up visits. They will be compared to Baseline visits and measured at 6-months interval and a year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 May 2022
- Study start13 Jun 2022
- Primary completion13 Jun 2032 (estimated)
- Study completion13 Jun 2033 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- More trials run by The Hospital for Sick ChildrenThe 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
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Hospital for Sick Children
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ajoy Vincent, The Hospital for Sick Children
- Investigators
- Ajoy Vincent, MS, Principal investigator, Associate Professor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05386134
- Sponsor's protocol ID
- 1000078905
- Status last verified
- Apr 2026
- First submitted
- 14 Apr 2022
- Last updated
- 28 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Deidentified IPD will be shared as part of a cohort (pertaining to specific genetic disorders). This will include age, sex, genetic variant, retinal photographs and adaptive optics images.
Study at a glance
From the registry record, last updated by the sponsor on 28 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Adaptive Optics Imaging in Retinal Disorders
- ClinicalTrials.gov ID
- NCT05386134
- Acronym / sponsor ID
- 1000078905
- Conditions
- Genetic Disease, Inherited Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- The Hospital for Sick ChildrenUniversity, hospital or other
- Study start
- 13 Jun 2022 (actual)
- Primary completion
- 13 Jun 2032 (estimated)
- Study completion
- 13 Jun 2033 (estimated)
- First posted
- 23 May 2022 (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.
This is a Prospective Observational study. The aim of the study is to understand the underlying photoreceptor, retinal pigment epithelium or retinal vascular aberrations in inherited and acquired retinal disorders. The study would use adaptive optics (AO) technology to assist in-vivo visualization of these retinal structures and ascertain changes from normal. Further, by using the AO imaging in patients before and after treatments, this study aims to better understand the effect of various interventions and develop AO as an outcome measure in various retinal disorders.
Detailed description
The investigators plan to recruit approximately 200 participants (approximately 175 study subjects and 25 Control group) having an inherited or acquired retinal disease. The study participants will be screened based on Inclusion and exclusion criteria. Eligible study and control participants will be consented prior to conducting any study related procedures. For the Data Collection, patient information including previous eye examination, past medical history and family history will be obtained from hospital charts. Patients will be asked to return for a follow-up visit at 6-months and at 1 year.
The Objectives of the study include:
- To test AO imaging in patients with well characterized genetic and non-genetic diseases in an attempt to - To better understand the underlying photoreceptor, retinal pigment epithelium or retinal vascular aberrations - To utilize the AO imaging in patients before and after treatments to better understand the effect of the intervention and develop AO as an outcome measure in various retinal disorders
- To test AO in healthy controls to serve as internal controls Patients with inherited or acquired retinal disease who satisfy the inclusion criteria and those who consent for the study will be screened for the study. Study participants and participants from the cohort group will then have a 6 month or annual follow-up visit as per the study protocol.
The primary outcome measures will be the quantify cone photoreceptors (density and spacing), retinal pigment epithelium density and retinal blood vascular flow in retinal disorders and compare it with controls. This will be calculated using software algorithms incorporated within AO machine (rtx1). Patient data will be compared with age-matched control data.
The secondary outcome measure would be to ascertain if using rtx1, the rate of progression of retinal disease or treatment effect can be quantified. To accomplish this, areas that were imaged at baseline will be reimaged at the follow up visits. Since the rtx1 machine has the capability to identify exact retinal location between the visits, these follow up images will be compared to baseline images to determine rate of disease progression or effectiveness of treatment.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Study Subjects | – | Device: Adaptive Optics Retinal CameraApproximately 175 Study Subjects |
| Control Group | – | Device: Adaptive Optics Retinal CameraApproximately 25 Control group |
Who may qualify
- Ages
- 5 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Initial contact with all study participants will be by their regular ophthalmologist during a regular clinic visit. All study participants will be explained the study objectives and procedures in detail by an investigator not involved in their direct care. Patients with retinal dystrophies will be recruited through the Ocular Genetics Program (OGP) at the Hospital for Sick Children. Patients with acquired retinal disorders will be recruited from the pediatric retina clinic at the Hospital for Sick Children.
Key inclusion criteria (7 listed)
- Consent provided
- Aged 5 - 70 years
- Diagnosed with well documented retinal disorder
- Subjects aged 5 years - 70 years with normal eye examination.
- Patients with strabismus and otherwise normal visual acuity and eye examination
Key exclusion criteria (8 listed)
- Inability of the subject to maintain a stable position while seated
- Uncontrolled nystagmus, trembling or movements of the eyes or the head
- Presence of cataract or any opacity in the front of the eye that obscures retinal imaging
- Any general disease such neurological disease which could affect vision and the retina.
- History of previous uveitis, glaucoma, previous intra-ocular surgery or photodynamic therapy
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 |
|---|---|---|
| Adaptive Optics Retinal CameraThe rtx1 is a non-invasive device functions without making contact with the eye. The fundus of the patient's eye is illuminated with the IR light emitted from the illumination optical system. The device is comprised of an optoelectronic sensor (OES) that measures the optical defects, software that calculates the necessary corrections and a deformable mirror (DM) that constantly adapts its shape to restore the image's clarity. The digital camera, which is built into the instrument, receives the images and then the images are recorded in the computer hard disk. The AO image software registers and averages the captured image series in order to reduce noise and produce a final enhanced image. The rtx1 integrates AO technology in a flood illumination imaging system and enables visualizing the retina with a high transverse optical resolution of 250 line-pairs per millimeter. | Device | Control Group, Study Subjects |
Primary outcome
To measure the change in Quantification of cone receptors
Time frame: Primary outcome will be measured at Baseline, 6-months ,1 year. The patient data will be compared to the control data.
The primary outcome measures will be to measure the change in the quantification of cone photoreceptors (density and spacing).This will be calculated using software algorithms incorporated within AO machine (rtx1).
To measure the change in Quantification of the retinal pigment epithelium density
Time frame: Primary outcomes will be measured at Baseline, 6-months ,1 year. The patient data will be compared to the control data.
The primary outcome measure will be to measure the change in quantification of the retinal pigment epithelium density. This will be calculated using software algorithms incorporated within AO machine (rtx1).
To measure the change in Quantification of retinal blood vascular flow in retinal disorders
Time frame: Primary outcomes will be measured at Baseline, 6-months ,1 year. The patient data will be compared to the control data.
The primary outcome measures the wall-to-lumen ratio (WLR) and the vascular wall cross-sectional area (WSCA) of retinal arterioles.
1 secondary outcome
To measure the change and rate of progression of retinal disease
Time frame: Secondary outcomes will be measured at follow-up visits. They will be compared to Baseline visits and measured at 6-months interval and a year
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Apr 2026.
- Individual participant dataSharing planned: Yes. Deidentified IPD will be shared as part of a cohort (pertaining to specific genetic disorders). This will include age, sex, genetic variant, retinal photographs and adaptive optics images.
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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.
Ajoy Vincent, MS principal investigator
Associate Professor
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Disease and Inherited Disease, run by The Hospital for Sick Children at 1 site in Canada.
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 7 inclusion and 8 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: looking for participants now, as of the sponsor's last update on 28 Apr 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 Canada. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ajoy Vincent, MS (416-813-1500 ext. 204169, ajoy.vincent@sickkids.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To measure the change in Quantification of cone receptors (time frame: Primary outcome will be measured at Baseline, 6-months ,1 year. The patient data will be compared to the control data.). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 28 Apr 2026.