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Study identifier: NCT05589714 Synced from ClinicalTrials.gov · July 28, 2026
● Recruiting

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

Condition: Inherited Retinal Degeneration · Retinitis Pigmentosa  ·  Sponsor: Jaeb Center for Health Research

PhaseN/A
Planned participants1500
Who can joinAll sexes, 4 Years to no upper limit
Healthy volunteersNo

About this study

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

This description comes directly from the study's public registry record.

Talk to the study team

Coordinating Center  ·  813-975-8690  ·  ffb@jaeb.org

Always discuss trial participation with your own doctor first.

Locations (36)

University of Arkansas, Jones Eye InstituteLittle Rock, Arkansas, United StatesRecruiting
USC Roski Eye InstituteLos Angeles, California, United StatesNot Yet Recruiting
University of California San FranciscoSan Francisco, California, United StatesRecruiting
University of Florida Health JacksonvilleJacksonville, Florida, United StatesRecruiting
University of Miami, Bascom Palmer Eye InstituteMiami, Florida, United StatesRecruiting
Emory University, Emory Eye CenterAtlanta, Georgia, United StatesRecruiting
Johns Hopkins University, Wilmer Eye InstituteBaltimore, Maryland, United StatesRecruiting
Harvard Univ., Massachusetts Eye and Ear InfirmaryBoston, Massachusetts, United StatesRecruiting
University of Michigan, Kellogg Eye CenterAnn Arbor, Michigan, United StatesRecruiting
Mayo ClinicRochester, Minnesota, United StatesRecruiting
Duke University, Duke Eye CenterDurham, North Carolina, United StatesRecruiting
Oregon Health & Science Univ., Casey Eye InstitutePortland, Oregon, United StatesRecruiting

+ 24 more locations — full list on the registry record.

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Source record: clinicaltrials.gov/study/NCT05589714