Monitoring and Early Detection of Treatable Inherited Retinal Disease in Children and Adolescents

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is an observational study that uses multimodal ultra-widefield retinal imaging to train and validate artificial intelligence algorithms. The aim is to distinguish RPE65- and RPGR-related inherited retinal degenerations from unaffected individuals and to quantify and monitor retinal changes over time. The work seeks to identify patients who may benefit from existing or emerging therapies and to support measurements of disease progression and treatment response. Imaging will be performed with widefield platforms from multiple manufacturers, focusing on peripheral retinal changes and biomarkers detectable by AI. The study acknowledges challenges in pediatric imaging, such as fixation instability, and emphasizes noninvasive methods to improve disease characterization.

Why it matters

Who can join: the full rules

Inclusion Criteria:

Participants must meet the criteria for one of the following study cohorts:

* 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.

Exclusion Criteria

* 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.

Where it's running

• UCL Institute of Ophthalmology
  London, United Kingdom Recruiting
• Massachusetts Eye and Ear
  Boston, Massachusetts, United States Not yet recruiting
• TransMIT Centre of Translational Ophthalmology c/o Justus-Liebig-University Giessen
  Laubach, Germany Completed

Study contacts

• Study coordinator: Nikolas Pontikos, PhD, MSci, MEng, FBCS
• Email: n.pontikos@ucl.ac.uk
• Phone: +44 207608 6800

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.