Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants

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

NCT Number	NCT05589714
Lead Sponsor	Jaeb Center for Health Research Collaborators: Foundation Fighting Blindness
Conditions	Inherited Retinal Degeneration, Retinitis Pigmentosa
Enrollment	1,500 participants
Start Date	2023-05-11
Primary Completion	2029-12-15 (estimated)
Study Completion	2030-12-15 (estimated)
Updated on ClinicalTrials.gov	2026-08-12