Actively Recruiting
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
Led by Jaeb Center for Health Research · Updated on 2026-04-14
1500
Participants Needed
36
Research Sites
396 weeks
Total Duration
On this page
Sponsors
J
Jaeb Center for Health Research
Lead Sponsor
F
Foundation Fighting Blindness
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
CONDITIONS
Official Title
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Willing to participate and able to provide consent
- Able and willing to complete all Registry/Screening assessments
- Age 4 years or older
- Genetic report showing at least one gene on the RD Rare Gene List meeting specified genetic screening criteria
- For recessive inheritance: at least 2 disease-causing variants in trans or meeting informatic criteria
- For dominant, X-linked, or mitochondrial inheritance: at least 1 disease-causing variant
- Both eyes diagnosed with retinal dystrophy
- Both eyes allow good quality photographic imaging (e.g., clear ocular media, pupil dilation, stable fixation)
You will not qualify if you...
- History of more than 1 year of treatment with agents associated with pigmentary retinopathy (e.g., amiodarone, chloroquine, deferoxamine, hydroxychloroquine, pentosan polysulfate, tamoxifen)
- Current vitreous hemorrhage in either eye
- Current complications of pathological myopia affecting imaging
- Intraocular surgery within 3 months prior to visit
- History or current diagnosis of glaucoma
- Current or history of retinal vascular occlusion or proliferative diabetic retinopathy
- Ocular diseases that may confound visual function assessment
- Prior use of ocular stem cell or gene therapy
- Prior treatment with ocriplasmin or certain intravitreal steroid implants
- Treatment with ophthalmic oligonucleotides within 9 months
- Treatment with other products within five times their half-life before screening visit
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 36 locations
1
University of Arkansas, Jones Eye Institute
Little Rock, Arkansas, United States, 72205
Actively Recruiting
2
USC Roski Eye Institute
Los Angeles, California, United States, 90033
Not Yet Recruiting
3
University of California San Francisco
San Francisco, California, United States, 94158
Actively Recruiting
4
University of Florida Health Jacksonville
Jacksonville, Florida, United States, 32209
Actively Recruiting
5
University of Miami, Bascom Palmer Eye Institute
Miami, Florida, United States, 33136
Actively Recruiting
6
Emory University, Emory Eye Center
Atlanta, Georgia, United States, 30322
Actively Recruiting
7
Johns Hopkins University, Wilmer Eye Institute
Baltimore, Maryland, United States, 21236
Actively Recruiting
8
Harvard Univ., Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, United States, 02114
Actively Recruiting
9
University of Michigan, Kellogg Eye Center
Ann Arbor, Michigan, United States, 48105
Actively Recruiting
10
Mayo Clinic
Rochester, Minnesota, United States, 55905
Actively Recruiting
11
Duke University, Duke Eye Center
Durham, North Carolina, United States, 27705
Actively Recruiting
12
Oregon Health & Science Univ., Casey Eye Institute
Portland, Oregon, United States, 97239
Actively Recruiting
13
University of Pennsylvania, Scheie Eye Institute
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
14
UPMC Eye Center
Pittsburgh, Pennsylvania, United States, 15213
Actively Recruiting
15
Retina Foundation of the Southwest
Dallas, Texas, United States, 75231
Actively Recruiting
16
Baylor College of Medicine, Alkek Eye Center
Houston, Texas, United States, 77030
Actively Recruiting
17
University of Utah, John Moran Eye Center
Salt Lake City, Utah, United States, 84132
Actively Recruiting
18
University of Wisconsin Madison
Madison, Wisconsin, United States, 53711
Actively Recruiting
19
Medical College of Wisconsin Eye Institute
Milwaukee, Wisconsin, United States, 53226
Actively Recruiting
20
Centre for Eye Research Australia
East Melbourne, Victoria, Australia
Actively Recruiting
21
Ghent University
Ghent, Belgium
Not Yet Recruiting
22
INRET Clínica e Centro de Pesquisa
Belo Horizonte, Minas Gerais, Brazil, 30150-270
Actively Recruiting
23
Instituto de Genética Ocular
São Paulo, São Paulo Province, Brazil
Actively Recruiting
24
University of Alberta and Alberta Health Services
Edmonton, Alberta, Canada
Actively Recruiting
25
University of Toronto, Hospital for Sick Children
Toronto, Ontario, Canada, M5G 2L3
Actively Recruiting
26
University Health Network
Toronto, Canada, M5T 2S8
Actively Recruiting
27
Helsinki University Hospital
Helsinki, Finland, 00100
Actively Recruiting
28
CHNO des Quinze-Vingts
Paris, France, 75012
Actively Recruiting
29
Hadassah-Hebrew University Medical Center
Jerusalem, Israel, 9112001
Actively Recruiting
30
Vista Vision Eye Clinic
Brescia, Italy, 25123
Actively Recruiting
31
Retina and Genomics Institute
Yucatán, Merida, Mexico
Actively Recruiting
32
Radboud University Medical Center
Nijmegen, Netherlands, 6525 GA
Actively Recruiting
33
Oslo University Hospital
Oslo, Norway
Not Yet Recruiting
34
University Hospital Basel
Basel, Canton of Basel-City, Switzerland
Actively Recruiting
35
University Hospital Jules-Gonin
Lausanne, Switzerland, 1004
Actively Recruiting
36
Moorfields Eye Hospital
London, United Kingdom, EC1V 2PD
Actively Recruiting
Research Team
C
Coordinating Center
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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