What this study is
Simplified from ClinicalTrials.govStudying AI programs that read wide-view eye images to learn whether they can spot and track inherited retinal degeneration, a gene-related eye disease, in people up to age 50 with RPE65 or RPGR gene changes. Images from healthy people, with and without nearsightedness, are used for comparison.
Read the original summary from ClinicalTrials.gov
The goals of this observational study are to develop and train artificial intelligence (AI) algorithms using multimodal imaging to identify patients with inherited retinal degeneration (IRD) caused by Retinal Pigment Epithelium Specific Protein 65 (RPE65) and Retinitis Pigmentosa GTPase Regulator (RPGR) mutations. Another algorithm will be developed to measure and monitor retinal changes over time, with the aim of helping identify patients who may be suitable for available or emerging treatments and supporting assessment of disease progression and treatment response.
The main questions this study aims to answer are:
1. Can AI algorithms accurately distinguish patients with RPE65- or RPGR-associated IRDs from individuals without these conditions using ultra-widefield retinal imaging? 2. Can AI algorithms accurately detect and quantify retinal abnormalities associated with these conditions and monitor their progression over time on ultra-widefield retinal imaging?
Researchers will compare retinal images from patients with RPE65- or RPGR-associated IRDs with images from healthy participants, including people with and without myopia, to assess how accurately the algorithms can distinguish between these groups and monitor disease-related changes.
Study details
- Sponsor
- University College, London
- Conditions
- Inherited Retinal Degeneration Associated With RPGR Mutations · Inherited Retinal Degeneration Associated With Biallelic RPE65 Mutations
- Enrolling
- 4,887 people
- Starts
- 2026-01-01
- Est. completion
- 2028-12-31
- Record
- View on ClinicalTrials.gov ↗
Who can join
Age Up to 50 YearsSex ALLHealthy volunteers AcceptedYou may qualify if
- Retinal Pigment Epithelium Specific Protein 65 (RPE65)-associated retinal degeneration: genetically confirmed biallelic sequence variants in RPE65.
- Participants with a clinical diagnosis of Leber congenital amaurosis or early onset severe retinal degeneration whose phenotype is suggestive of biallelic RPE65-associated retinal degeneration will also be eligible for inclusion.
- Retinitis Pigmentosa GTPase Regulator (RPGR)-associated retinal degeneration: genetically confirmed hemizygous RPGR sequence variants in male participants, or female participants with single heterozygous RPGR sequence variants or homozygous or compound heterozygous RPGR sequence variants will be included in this cohort.
- Participants with a clinical diagnosis of X-linked Retinitis Pigmentosa and X-linked cone-rod degeneration whose phenotype is suggestive of RPGR-associated retinal degeneration will also be eligible for inclusion.
- Control cohorts: participants without inherited retinal degeneration, including both myopic (defined as mean spherical equivalent refractive error of ≤ -1.00 dioptres (D)) and non-myopic individuals. All will be from diverse ethnic backgrounds, for development of a normative retinal imaging dataset.
- Availability of retinal imaging data of sufficient quality for the planned analyses.
You can't join if
- Participants who do not meet the clinical, genetic, or control-group criteria for any of the predefined study cohorts.
- Participants for whom the retinal imaging data required for the planned analyses are unavailable.
- Participants whose retinal images are of insufficient quality for reliable image analysis.
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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Study locations (3)
2 openMassachusetts Eye and Ear
Boston, Massachusetts, United States
- Demetrios Vavvas, MD, PhD · Contact617-573-6359demetrios_vavvas@meei.harvard.edu
- Mohammad Dahrouj, MD, PhD · Contact617-573-3228Mohammad_Dahrouj@meei.harvard.edu
- Demetrios Vavvas, MD, PhD · Principal investigator
- Mohammad Dahrouj, MD, PhD · Sub-investigator
Not yet recruiting
2 sites outside the US
UCL Institute of Ophthalmology
London, United Kingdom
- Nikolas Pontikos, PhD, MSci, MEng, FBCS · Contact+44 207608 6800n.pontikos@ucl.ac.uk
- Nikolas Pontikos, PhD, MSci, MEng, FBCS · Principal investigator
RecruitingTransMIT Centre of Translational Ophthalmology c/o Justus-Liebig-University Giessen
Laubach, Germany
Completed
Study team
Sponsor
University College, London
Study ID EDGE ID 181995
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.