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

Description

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

Inherited Retinal Degeneration, Retinitis Pigmentosa

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Study Overview

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Study Details

Study overview

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

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

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

Condition
Inherited Retinal Degeneration
Intervention / Treatment

-

Contacts and Locations

Los Angeles

USC Roski Eye Institute, Los Angeles, California, United States, 90033

San Francisco

University of California San Francisco, San Francisco, California, United States, 94158

Jacksonville

University of Florida Health Jacksonville, Jacksonville, Florida, United States, 32209

Miami

University of Miami, Bascom Palmer Eye Institute, Miami, Florida, United States, 33136

Atlanta

Emory University, Emory Eye Center, Atlanta, Georgia, United States, 30322

Baltimore

Johns Hopkins University, Wilmer Eye Institute, Baltimore, Maryland, United States, 21236

Boston

Harvard Univ., Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States, 02114

Ann Arbor

University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, United States, 48105

Rochester

Mayo Clinic, Rochester, Minnesota, United States, 55905

Durham

Duke University, Duke Eye Center, Durham, North Carolina, United States, 27705

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Willing to participate in the study and able to communicate consent during the consent process
  • 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):
  • 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
  • 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)
  • 1. 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.

Ages Eligible for Study

4 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Jaeb Center for Health Research,

José-Alain Sahel, MD, STUDY_CHAIR, Director, UPMC Eye Center University of Pittsburgh School of Medicine

Study Record Dates

2028-12-15