Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated… (NCT05589714) | Clinical Trial Compass
RecruitingNot Applicable
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
United States, Australia, Belgium1,500 participantsStarted 2023-05-11
Plain-language summary
This is an international, multicenter study with two components:
Registry
* A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection
* Enrollment is open to all genes on the RD Rare Gene List
Natural History Study
* A prospective, standardized, longitudinal Natural History Study
* Enrollment opens gene-by-gene, based on funding and within-gene Registry enrollment The study objectives are as follows.
Registry Objectives
1. Genotype Characterization
2. Cross-Sectional Phenotype Characterization (within gene)
3. Establish a Link to My Retina Tracker Registry (MRTR)
4. Ancillary Exploratory Studies - Pooling of Genes
Natural History Study Objectives
1. Natural History (within gene)
2. Structure-Function Relationship (within gene)
3. Risk Factors for Progression (within gene)
4. Ancillary Exploratory Studies - Pooling of Genes
Who can participate
Age range
4 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. Willing to participate in the study and able to communicate consent during the consent process
. Willing and able to complete all applicable Registry/Screening Visit assessments
. Age ≥ 4 years
. Must have a single gene on the RD Rare Gene List which meets one of the Genetic Screening Criteria below based on a genetic report\* from a clinically certified lab (or from a research lab which has been approved by the study Genetics Committee):
. Investigator confirms genotype and phenotype are consistent with autosomal recessive inheritance
. The 2 disease-causing variants have not been reported in cis in variant databases
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Functional Outcome: Characterize change using Visual field sensitivity measured with quantitative topographic analysis (hill of vision [HOV])
Timeframe: Baseline and every year until study completion (4 years)
2
Functional Outcome: Characterize Change Using Early Treatment of Diabetic Retinopathy Study (ETDRS) / HOTV Best Corrected Visual Acuity (BCVA) letter score
Timeframe: Baseline and every year until study completion (4 years)
3
Functional Outcome: Characterize Change Using Low visual acuity test - for participants unable to see ETDRS letters
Timeframe: Baseline and every year until study completion (4 years)
4
Functional Outcome: Characterize Change Using ETDRS/HOTV best corrected low luminance visual acuity letter score
Timeframe: Baseline and every year until study completion (4 years)
5
Functional Outcome: Characterize Change in Mean retinal sensitivity
Timeframe: Baseline and every year until study completion (4 years)
6
Functional Outcome: Characterize Change in Contrast sensitivity function
Timeframe: Baseline and every year until study completion (4 years)
. No additional potentially pathogenic variants were found on the gene (and the sequencing data for the gene were sufficiently robust to detect any additional potentially pathogenic variants)
. No potentially pathogenic variants were found in other common, likely candidate genes for the proposed condition
Exclusion criteria
. Current vitreous hemorrhage
. Current complications of pathological myopia (for example, but not limited to, myopic maculopathy including atrophy, scar, choroidal neovascularization, schisis) that could inhibit ability to obtain good quality photographic imaging
. History of intraocular surgery (for example, but not limited to, cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within 3 months of Registry/Screening Visit
. Current or any history of confirmed diagnosis of glaucoma (for example, but not limited to, glaucomatous VF changes or nerve changes, or history of glaucoma filtering surgery)
. Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
. History or current evidence of ocular disease that, in the opinion of the Investigator, may confound assessment of visual function (for example, but not limited to, tractional or rhegmatogenous retinal detachment, any vitreoretinal surgery, retinal vascular occlusion, proliferative diabetic retinopathy)
. The following medications and treatments are prohibited as they can affect progression of retinitis pigmentosa (RP). The participant must not have received the following treatments:
. The following medications and treatments are excluded within the specified timeframe:
7
Functional Outcome: Characterize Change in Retinal function using amplitudes and timing in response to rod- and cone-specific stimuli
Timeframe: Baseline and at study completion (4 years)
8
Functional Outcome: Characterize Change in Full-field retinal sensitivity
Timeframe: Baseline and every year until study completion (4 years)
9
Functional Outcome: Characterize Change in Color vision function
Timeframe: Baseline and every year until study completion (4 years)
10
Structural Outcome: Characterize Change in Ellipsoid zone (EZ) area; outer nuclear layer and ganglion cell layer thicknesses
Timeframe: Baseline and every year until study completion (4 years)
11
Structural Outcome: Characterize Change Using Qualitative and quantitative assessments of autofluorescence pattern
Timeframe: Baseline and every year until study completion (4 years)