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

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

First listed

Oct 21, 2022

Start date

May 11, 2023

Status verified

Jun 2026

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

• Coordinating Center
  813-975-8690
  [email protected]

Locations (19)

Find similar trials in Little Rock, AR

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