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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