Trials / NCT05589714
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
Recruiting now Observational Natural history / observational
- Sponsor
- Jaeb Center for Health Research
- Treatment
- Not listed
- Gene
- Not stated
- Conditions
- Inherited Retinal Degeneration, Retinitis Pigmentosa
- Ages
- 4 Years to no upper limit
- Enrollment
- 1500 participants
- Started
- 2023-05-11
- Main results expected
- 2029-12-15
- Results posted
- Not yet
- Record last updated
- 2026-10-29
What the study is testing
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
- Genotype Characterization
- Cross-Sectional Phenotype Characterization (within gene)
- Establish a Link to My Retina Tracker Registry (MRTR)
- Ancillary Exploratory Studies - Pooling of Genes
Natural History Study Objectives
- Natural History (within gene)
- Structure-Function Relationship (within gene)
- Risk Factors for Progression (within gene)
- Ancillary Exploratory Studies - Pooling of Genes
Where it runs
Australia (1)
- Centre for Eye Research Australia, East Melbourne, Victoria (recruiting now)
Belgium (1)
- Ghent University, Ghent (not yet recruiting)
Brazil (2)
- INRET Clínica e Centro de Pesquisa, Belo Horizonte, Minas Gerais (recruiting now)
- Instituto de Genética Ocular, São Paulo, São Paulo Province (recruiting now)
Canada (3)
- University of Alberta and Alberta Health Services, Edmonton, Alberta (recruiting now)
- University of Toronto, Hospital for Sick Children, Toronto, Ontario (recruiting now)
- University Health Network, Toronto (recruiting now)
Finland (1)
- Helsinki University Hospital, Helsinki (recruiting now)
France (1)
- CHNO des Quinze-Vingts, Paris (recruiting now)
Israel (1)
- Hadassah-Hebrew University Medical Center, Jerusalem (recruiting now)
Italy (1)
- Vista Vision Eye Clinic, Brescia (recruiting now)
Mexico (1)
- Retina and Genomics Institute, Yucatán, Merida (recruiting now)
Netherlands (1)
- Radboud University Medical Center, Nijmegen (recruiting now)
Norway (1)
- Oslo University Hospital, Oslo (recruiting now)
Switzerland (2)
- University Hospital Basel, Basel, Canton of Basel-City (recruiting now)
- University Hospital Jules-Gonin, Lausanne (recruiting now)
United Kingdom (1)
- Moorfields Eye Hospital, London (recruiting now)
United States (19)
- University of Arkansas, Jones Eye Institute, Little Rock, Arkansas (recruiting now)
- USC Roski Eye Institute, Los Angeles, California (recruiting now)
- University of California San Francisco, San Francisco, California (recruiting now)
- University of Florida Health Jacksonville, Jacksonville, Florida (recruiting now)
- University of Miami, Bascom Palmer Eye Institute, Miami, Florida (recruiting now)
- Emory University, Emory Eye Center, Atlanta, Georgia (recruiting now)
- Johns Hopkins University, Wilmer Eye Institute, Baltimore, Maryland (recruiting now)
- Harvard Univ., Massachusetts Eye and Ear Infirmary, Boston, Massachusetts (recruiting now)
- University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan (recruiting now)
- Mayo Clinic, Rochester, Minnesota (recruiting now)
- Duke University, Duke Eye Center, Durham, North Carolina (recruiting now)
- Oregon Health & Science Univ., Casey Eye Institute, Portland, Oregon (recruiting now)
- University of Pennsylvania, Scheie Eye Institute, Philadelphia, Pennsylvania (recruiting now)
- UPMC Eye Center, Pittsburgh, Pennsylvania (recruiting now)
- Retina Foundation of the Southwest, Dallas, Texas (recruiting now)
- Baylor College of Medicine, Alkek Eye Center, Houston, Texas (recruiting now)
- University of Utah, John Moran Eye Center, Salt Lake City, Utah (recruiting now)
- University of Wisconsin Madison, Madison, Wisconsin (recruiting now)
- Medical College of Wisconsin Eye Institute, Milwaukee, Wisconsin (recruiting now)