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

Part of paid clinical trials in Little Rock, Arkansas.

Sponsor
Jaeb Center for Health Research
Study ID
NCT05589714
Status
Recruiting
Apply to this trial

Conditions

  • Inherited Retinal Degeneration
  • Retinitis Pigmentosa

Eligibility Criteria

Sex
ALL
Age
4 Years - N/A
Healthy Volunteers
Not accepted

Study Details

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 Dates

Start date
May 11, 2023
Status verified
May 2025
Primary completion
Dec 15, 2029
Completion
Dec 15, 2030

Study Design

Enrollment
1,500 participants (estimated)

Arms

  • Arm: 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.
  • Arm: 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
  • Arm: 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
  • Arm: 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)

Primary Outcome Measure

Functional Outcome: Characterize change using Visual field sensitivity measured with quantitative topographic analysis (hill of vision [HOV]) [ Time Frame: Baseline and every year until study completion (4 years) ]

Central Contacts

Locations (19)

FacilityCityStateZIPSite coordinators
University of Arkansas, Jones Eye InstituteLittle RockArkansas72205
Sami Uwaydat, MD
[email protected]
501-296-1156
USC Roski Eye InstituteLos AngelesCalifornia90033
Hossein Ameri, MD, PhD
[email protected]
323-442-6490
University of California San FranciscoSan FranciscoCalifornia94158
Jacque Duncan, MD
[email protected]
(415)502-5161
University of Florida Health JacksonvilleJacksonvilleFlorida32209
Sandeep Grover, MD
[email protected]
University of Miami, Bascom Palmer Eye InstituteMiamiFlorida33136
Byron Lam, MD
[email protected]
(305) 243-0314
(786) 218-8363
Emory University, Emory Eye CenterAtlantaGeorgia30322
Nieraj Jain, MD
[email protected]
404-778-4725
Johns Hopkins University, Wilmer Eye InstituteBaltimoreMaryland21236
Mandeep S. Singh, MD, PhD
[email protected]
443-287-7912
[email protected]
410-502-1231
Harvard Univ., Massachusetts Eye and Ear InfirmaryBostonMassachusetts02114
Rachel Huckfeldt, MD, PhD
[email protected]
617-573-4401
University of Michigan, Kellogg Eye CenterAnn ArborMichigan48105
Abigail Fahim, MD, PhD
[email protected]
734-615-8560
Mayo ClinicRochesterMinnesota55905
Brittni Scruggs, MD, PhD
[email protected]
507-538-8119
Duke University, Duke Eye CenterDurhamNorth Carolina27705
Ramiro Maldonado, MD
[email protected]
1-919-668-8333
Oregon Health & Science Univ., Casey Eye InstitutePortlandOregon97239
Lesley Everett, MD, PhD
[email protected]
(503) 494-3370
University of Pennsylvania, Scheie Eye InstitutePhiladelphiaPennsylvania19104
Tomas Aleman, MD
[email protected]
215-662-6396
UPMC Eye CenterPittsburghPennsylvania15213
Boris Rosin, MD, PhD
[email protected]
412-642-1940
Retina Foundation of the SouthwestDallasTexas75231
Mark Pennesi, PhD
[email protected]
214-363-3911
Kaylie Jones
Baylor College of Medicine, Alkek Eye CenterHoustonTexas77030
John T. Stout, MD, PhD
[email protected]
713-798-2759
University of Utah, John Moran Eye CenterSalt Lake CityUtah84132
Paul Bernstein, MD, PhD
[email protected]
801-213-2034
University of Wisconsin MadisonMadisonWisconsin53711
Kimberly Stepien, MD
[email protected]
608-263-8783
Medical College of Wisconsin Eye InstituteMilwaukeeWisconsin53226
Thomas Connor, MD
[email protected]
414-955-2001

Find similar trials in Little Rock, AR

By research site
University of Arkansas, Jones Eye Institute· Little Rock, ARUSC Roski Eye Institute· Los Angeles, CAUniversity of California San Francisco· San Francisco, CAUniversity of Florida Health Jacksonville· Jacksonville, FLUniversity of Miami, Bascom Palmer Eye Institute· Miami, FLEmory University, Emory Eye Center· Atlanta, GA

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