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First received: October 18, 2022

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

Study Status: Completed

Recruit Status: RECRUITING

Condition: Inherited Retinal Degeneration

Study Type: OBSERVATIONAL


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

Brief Summary: This is an international, multicenter study with two components:RegistryA standardized genetic screening and a prospective, standardized, cross-sectional clinical data collectionEnrollment is open to all genes on the RD Rare Gene ListNatural History StudyA prospective, standardized, longitudinal Natural History StudyEnrollment opens gene-by-gene, based on funding and within-gene Registry enrollment The study objectives are as follows.Registry ObjectivesGenotype CharacterizationCross-Sectional Phenotype…

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