Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
NCT ID: NCT05589714
Last Updated: 2026-02-02
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
1500 participants
OBSERVATIONAL
2023-05-11
2030-12-15
Brief Summary
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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
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Detailed Description
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1. Screening Phase
The patient's current genetic report will be reviewed. Genetic testing will not be performed in this study. A prior conclusive genetic test will be assessed for screening analysis. Having at least one gene on the RD Rare Gene List meets one of the eligible Genetic Screening Criteria and other eligibility criteria can be evaluated based on medical history.
2. Genetic Screening Phase:
Genetic reports for participants enrolled into the genetic screening phase will be uploaded to study website for review and confirmation by Central Genetics Auditor (CGA) as meeting Genetic Screening Criteria.Participants confirmed as meeting those criteria will be considered enrolled into the Registry.
3. Registry Phase:
The flow of participants who are enrolled into the Registry depends on whether their causal gene is designated as a Natural History Study (NHS) Target Gene. If they are not Designated as NHS Target Gene, they will receive annual phone calls up to 48 months from the Registry/Screening visit or until the gene is designated as NHS Target Gene. If they are Designated as NHS Target Gene participants will be considered pending enrollment into the NHS.
The Registry will establish genetically and clinically well-characterized cohorts of patients across hundreds of genetic variants associated with retinal dystrophy (RD). Characterization of these patients will accelerate eligibility screening for the Natural History Study, provide cross-sectional data on phenotype-genotype associations, and contribute to our knowledge of pathogenicity of these rare disease-causing variants.
4. Natural History Study (NHS) Phase
Participants pending enrollment will return to the clinic for the NHS Enrollment/Baseline Visit and return to the clinic for follow-up visits.
The Natural History Study will accelerate the identification and development of sensitive, reliable outcome measures for clinical trials, which will facilitate development of treatments for retinal dystrophies due to disease-causing genetic variants. The expected impact of the Natural History Study is as follows:
1. Describe the natural history of retinal degeneration in patients with rare disease-causing genetic variants
2. Identify sensitive structural and functional outcome
3. Identify well-defined subpopulations for future clinical trials of investigative treatments for rare inherited retinal degeneration
Conditions
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Study Design
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COHORT
CROSS_SECTIONAL
Study Groups
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Younger Age Cohort
Participants ages ≥ 4 years and \< 8 years old will be designated as the Younger Age Cohort.
* Participants in this cohort will not be assigned a Vision Cohort.
* Registry/Screening Visit and Natural History Study Visits will have an abbreviated testing schedule, detailed in the Schedule of Study Visits and Procedures table.
No interventions assigned to this group
Vision Cohort 1
Participants who are aged ≥ 8 years old will be designated into a Vision Cohort based on data in the better eye, at the Registry/Screening Visit. Criteria that must be met in the better eye\* at the Registry/Screening Visit: visual acuity ETDRS letter score of 54 or more (approximate Snellen equivalent 20/80 or better) and visual field\*\* diameter 10 degrees or more in every meridian of the central field
No interventions assigned to this group
Vision Cohort 2
Participants who are aged ≥ 8 years old will be designated into a Vision Cohort based on data in the better eye, at the Registry/Screening Visit. Criteria that must be met in the better eye\* at the Registry/Screening Visit: visual acuity ETDRS letter score of 19-53 (approximate Snellen equivalent 20/100 to 20/400) or visual acuity ETDRS letter score of 54 or more (approximate Snellen equivalent 20/80 or better) and visual field\*\* diameter less than 10 degrees in any meridian of the central field
No interventions assigned to this group
Vision Cohort 3
Participants who are aged ≥ 8 years old will be designated into a Vision Cohort based on data in the better eye, at the Registry/Screening Visit. Criteria that must be met in the better eye\* at the Registry/Screening Visit: visual acuity ETDRS letter score of 18 or less (approximate Snellen equivalent 20/500 or worse)
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
2. Willing and able to complete all applicable Registry/Screening Visit assessments
3. Age ≥ 4 years
4. Must have a single gene on the RD Rare Gene List which meets one of the Genetic Screening Criteria below based on a genetic report\* from a clinically certified lab (or from a research lab which has been approved by the study Genetics Committee):
Inheritance Pattern is Recessive and has at least 2 disease-causing variants which are homozygous or heterozygous in trans
OR
Inheritance Pattern is Recessive and has 2 disease-causing variants with unknown phase and meets all the following additional informatic criteria that is consistent with likely segregation in trans:
1. Investigator confirms genotype and phenotype are consistent with autosomal recessive inheritance
2. The 2 disease-causing variants have not been reported in cis in variant databases
3. No additional potentially pathogenic variants were found on the gene (and the sequencing data for the gene were sufficiently robust to detect any additional potentially pathogenic variants)
4. No potentially pathogenic variants were found in other common, likely candidate genes for the proposed condition
OR
Inheritance Pattern is Dominant, X-linked, or Mitochondrial and has at least 1 disease-causing variant
Both eyes must meet the following criteria at the Registry/Screening Visit to enroll into the genetic screening phase:
1. Both eyes must have a clinical diagnosis of retinal dystrophy
2. Both eyes must permit good quality photographic imaging (e.g., but not limited to, clear ocular media, adequate pupil dilation, stable fixation)
Exclusion Criteria
1. Current vitreous hemorrhage
2. 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
3. History of intraocular surgery (for example, but not limited to, cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within 3 months of Registry/Screening Visit
4. 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)
5. Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
6. 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)
7. 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
8. 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)
4 Years
ALL
No
Sponsors
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Foundation Fighting Blindness
OTHER
Jaeb Center for Health Research
OTHER
Responsible Party
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Principal Investigators
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José-Alain Sahel, MD
Role: STUDY_CHAIR
Director, UPMC Eye Center University of Pittsburgh School of Medicine
Locations
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University of Arkansas, Jones Eye Institute
Little Rock, Arkansas, United States
USC Roski Eye Institute
Los Angeles, California, United States
University of California San Francisco
San Francisco, California, United States
University of Florida Health Jacksonville
Jacksonville, Florida, United States
University of Miami, Bascom Palmer Eye Institute
Miami, Florida, United States
Emory University, Emory Eye Center
Atlanta, Georgia, United States
Johns Hopkins University, Wilmer Eye Institute
Baltimore, Maryland, United States
Harvard Univ., Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, United States
University of Michigan, Kellogg Eye Center
Ann Arbor, Michigan, United States
Mayo Clinic
Rochester, Minnesota, United States
Duke University, Duke Eye Center
Durham, North Carolina, United States
Oregon Health & Science Univ., Casey Eye Institute
Portland, Oregon, United States
University of Pennsylvania, Scheie Eye Institute
Philadelphia, Pennsylvania, United States
UPMC Eye Center
Pittsburgh, Pennsylvania, United States
Retina Foundation of the Southwest
Dallas, Texas, United States
Baylor College of Medicine, Alkek Eye Center
Houston, Texas, United States
University of Utah, John Moran Eye Center
Salt Lake City, Utah, United States
University of Wisconsin Madison
Madison, Wisconsin, United States
Medical College of Wisconsin Eye Institute
Milwaukee, Wisconsin, United States
Centre for Eye Research Australia
East Melbourne, Victoria, Australia
Ghent University
Ghent, , Belgium
INRET Clínica e Centro de Pesquisa
Belo Horizonte, Minas Gerais, Brazil
Instituto de Genética Ocular
São Paulo, São Paulo Province, Brazil
University of Alberta and Alberta Health Services
Edmonton, Alberta, Canada
University of Toronto, Hospital for Sick Children
Toronto, Ontario, Canada
University Health Network
Toronto, , Canada
Helsinki University Hospital
Helsinki, , Finland
CHNO des Quinze-Vingts
Paris, , France
Hadassah-Hebrew University Medical Center
Jerusalem, , Israel
Vista Vision Eye Clinic
Brescia, , Italy
Retina and Genomics Institute
Yucatán, Merida, Mexico
Radboud University Medical Center
Nijmegen, , Netherlands
Oslo University Hospital
Oslo, , Norway
University Hospital Basel
Basel, Canton of Basel-City, Switzerland
University Hospital Jules-Gonin
Lausanne, , Switzerland
Moorfields Eye Hospital
London, , United Kingdom
Countries
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Central Contacts
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Facility Contacts
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Role: backup
Kaylie Jones
Role: backup
Bart Leroy, MD, PhD
Role: primary
Sabahat Javaid
Role: backup
Role: backup
Provided Documents
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Document Type: Study Protocol
Related Links
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Foundation Fighting Blindness Public Website
Uni-Rare Rare Gene List
Other Identifiers
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Uni-Rare
Identifier Type: -
Identifier Source: org_study_id
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