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

Recruiting now

Conditions studied: Inherited Retinal Degeneration, Retinitis Pigmentosa

In brief

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

Key facts

Study ID: NCT05589714
Run by: Jaeb Center for Health Research
People needed: 1500
Starts: 2023-05-11
Expected to finish: 2030-12-15
Last updated by the study team: 2026-06-26

Who can join

Age: 4 and older. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

Participants must not meet any of the following exclusion criteria at the Registry/Screening Visit to be eligible to enroll into the genetic screening phase:
History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy including amiodarone, chloroquine, deferoxamine, hydroxychloroquine, pentosan polysulfate, tamoxifen, and deferoxamine Note: Since this is an observational study, pregnant women will not be specifically excluded from participation. However, minors that are pregnant shall be precluded from participation until they become the age of majority.
Ocular Exclusion Criteria:
If either eye has any of the following ocular exclusion criteria at the Registry/Screening Visit, then the participant is not eligible to enroll into the genetic screening phase:
Current vitreous hemorrhage
Current complications of pathological myopia (for example, but not limited to, myopic maculopathy including atrophy, scar, choroidal neovascularization, schisis) that could inhibit ability to obtain good quality photographic imaging
History of intraocular surgery (for example, but not limited to, cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within 3 months of Registry/Screening Visit
Current or any history of confirmed diagnosis of glaucoma (for example, but not limited to, glaucomatous VF changes or nerve changes, or history of glaucoma filtering surgery)
Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
History or current evidence of ocular disease that, in the opinion of the Investigator, may confound assessment of visual function (for example, but not limited to, tractional or rhegmatogenous retinal detachment, any vitreoretinal surgery, retinal vascular occlusion, proliferative diabetic retinopathy)
The following medications and treatments are prohibited as they can affect progression of retinitis pigmentosa (RP). The participant must not have received the following treatments:
Any use of ocular stem cell or gene therapy Any treatment with ocriplasmin Treatment with Ozurdex (dexamethasone), Iluvien, or Yutiq (fluocinolone acetonide) intravitreal implant
The following medications and treatments are excluded within the specified timeframe:
Treatment with an ophthalmic oligonucleotide within the last 9 months (last treatment date is less than 9 months prior to Registry/Screening Visit date)
Treatment with any other product within five times the expected half-life of the product (time from last treatment date to Registry/Screening Visit date is at least 5 times the half-life of the given product)

Where it is running

Moorfields Eye Hospital — London, United Kingdom (enrolling)
University Hospital Basel — Basel, Canton of Basel-City, Switzerland (enrolling)
University Hospital Jules-Gonin — Lausanne, Switzerland (enrolling)
University of Arkansas, Jones Eye Institute — Little Rock, Arkansas, United States (enrolling)
University of California San Francisco — San Francisco, California, United States (enrolling)
University of Florida Health Jacksonville — Jacksonville, Florida, United States (enrolling)
University of Miami, Bascom Palmer Eye Institute — Miami, Florida, United States (enrolling)
Emory University, Emory Eye Center — Atlanta, Georgia, United States (enrolling)
Johns Hopkins University, Wilmer Eye Institute — Baltimore, Maryland, United States (enrolling)
Harvard Univ., Massachusetts Eye and Ear Infirmary — Boston, Massachusetts, United States (enrolling)
University of Michigan, Kellogg Eye Center — Ann Arbor, Michigan, United States (enrolling)
Mayo Clinic — Rochester, Minnesota, United States (enrolling)
Duke University, Duke Eye Center — Durham, North Carolina, United States (enrolling)
Oregon Health & Science Univ., Casey Eye Institute — Portland, Oregon, United States (enrolling)
University of Pennsylvania, Scheie Eye Institute — Philadelphia, Pennsylvania, United States (enrolling)
UPMC Eye Center — Pittsburgh, Pennsylvania, United States (enrolling)
Retina Foundation of the Southwest — Dallas, Texas, United States (enrolling)
Baylor College of Medicine, Alkek Eye Center — Houston, Texas, United States (enrolling)
University of Utah, John Moran Eye Center — Salt Lake City, Utah, United States (enrolling)
University of Wisconsin Madison — Madison, Wisconsin, United States (enrolling)
Medical College of Wisconsin Eye Institute — Milwaukee, Wisconsin, United States (enrolling)
Centre for Eye Research Australia — East Melbourne, Victoria, Australia (enrolling)
INRET Clínica e Centro de Pesquisa — Belo Horizonte, Minas Gerais, Brazil (enrolling)
Instituto de Genética Ocular — São Paulo, São Paulo Province, Brazil (enrolling)
University of Alberta and Alberta Health Services — Edmonton, Alberta, Canada (enrolling)

Full record on ClinicalTrials.gov

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