RECRUITING

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

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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

Official Title

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

Quick Facts

Study Start:2023-05-11

Study Completion:2028-12-15

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT05589714

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.

Ages Eligible for Study:4 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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.

Inclusion Criteria

Exclusion 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.

Contacts and Locations

Study Contact

Coordinating Center

CONTACT

813-975-8690

ffb@jaeb.org

Principal Investigator

José-Alain Sahel, MD

STUDY_CHAIR

Director, UPMC Eye Center University of Pittsburgh School of Medicine

Study Locations (Sites)

USC Roski Eye Institute

Los Angeles, California, 90033

United States

University of California San Francisco

San Francisco, California, 94158

United States

University of Florida Health Jacksonville

Jacksonville, Florida, 32209

United States

University of Miami, Bascom Palmer Eye Institute

Miami, Florida, 33136

United States

Emory University, Emory Eye Center

Atlanta, Georgia, 30322

United States

Johns Hopkins University, Wilmer Eye Institute

Baltimore, Maryland, 21236

United States

Harvard Univ., Massachusetts Eye and Ear Infirmary

Boston, Massachusetts, 02114

United States

University of Michigan, Kellogg Eye Center

Ann Arbor, Michigan, 48105

United States

Mayo Clinic

Rochester, Minnesota, 55905

United States

Duke University, Duke Eye Center

Durham, North Carolina, 27705

United States

Oregon Health & Science Univ., Casey Eye Institute

Portland, Oregon, 97239

United States

Center for Advanced Retinal and Ocular Therapeutics

Philadelphia, Pennsylvania, 19104

United States

University of Pennsylvania, Scheie Eye Institute

Philadelphia, Pennsylvania, 19104

United States

UPMC Eye Center

Pittsburgh, Pennsylvania, 15213

United States

Retina Foundation of the Southwest

Dallas, Texas, 75231

United States

Baylor College of Medicine, Alkek Eye Center

Houston, Texas, 77030

United States

University of Utah, John Moran Eye Center

Salt Lake City, Utah, 84132

United States

University of Wisconsin Madison

Madison, Wisconsin, 53711

United States

Medical College of Wisconsin Eye Institute

Milwaukee, Wisconsin, 53226

United States

Collaborators and Investigators

Sponsor: Jaeb Center for Health Research

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2023-05-11

Study Completion Date2028-12-15

Study Record Updates

Study Start Date2023-05-11

Study Completion Date2028-12-15

Terms related to this study

Keywords Provided by Researchers

Inherited Retinal Degeneration

Additional Relevant MeSH Terms

Inherited Retinal Degeneration
Retinitis Pigmentosa