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

Status: Recruiting
Location: See all (36) locations...
Study Type: Observational
SUMMARY

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

Eligibility
Participation Requirements
Sex: All
Minimum Age: 4
Healthy Volunteers: f
View:

• Willing to participate in the study and able to communicate consent during the consent process

• Willing and able to complete all applicable Registry/Screening Visit assessments

• Age ≥ 4 years

• 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:

• Investigator confirms genotype and phenotype are consistent with autosomal recessive inheritance

• The 2 disease-causing variants have not been reported in cis in variant databases

• 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)

• 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:

• Both eyes must have a clinical diagnosis of retinal dystrophy

• Both eyes must permit good quality photographic imaging (e.g., but not limited to, clear ocular media, adequate pupil dilation, stable fixation)

Locations
United States
Arkansas
University of Arkansas, Jones Eye Institute
RECRUITING
Little Rock
California
USC Roski Eye Institute
NOT_YET_RECRUITING
Los Angeles
University of California San Francisco
RECRUITING
San Francisco
Florida
University of Florida Health Jacksonville
RECRUITING
Jacksonville
University of Miami, Bascom Palmer Eye Institute
RECRUITING
Miami
Georgia
Emory University, Emory Eye Center
RECRUITING
Atlanta
Massachusetts
Harvard Univ., Massachusetts Eye and Ear Infirmary
RECRUITING
Boston
Maryland
Johns Hopkins University, Wilmer Eye Institute
RECRUITING
Baltimore
Michigan
University of Michigan, Kellogg Eye Center
RECRUITING
Ann Arbor
Minnesota
Mayo Clinic
RECRUITING
Rochester
North Carolina
Duke University, Duke Eye Center
RECRUITING
Durham
Oregon
Oregon Health & Science Univ., Casey Eye Institute
RECRUITING
Portland
Pennsylvania
University of Pennsylvania, Scheie Eye Institute
RECRUITING
Philadelphia
UPMC Eye Center
RECRUITING
Pittsburgh
Texas
Retina Foundation of the Southwest
RECRUITING
Dallas
Baylor College of Medicine, Alkek Eye Center
RECRUITING
Houston
Utah
University of Utah, John Moran Eye Center
RECRUITING
Salt Lake City
Wisconsin
University of Wisconsin Madison
RECRUITING
Madison
Medical College of Wisconsin Eye Institute
RECRUITING
Milwaukee
Other Locations
Australia
Centre for Eye Research Australia
RECRUITING
East Melbourne
Belgium
Ghent University
NOT_YET_RECRUITING
Ghent
Brazil
INRET Clínica e Centro de Pesquisa
RECRUITING
Belo Horizonte
Instituto de Genética Ocular
RECRUITING
São Paulo
Canada
University of Alberta and Alberta Health Services
RECRUITING
Edmonton
University Health Network
RECRUITING
Toronto
University of Toronto, Hospital for Sick Children
RECRUITING
Toronto
Finland
Helsinki University Hospital
RECRUITING
Helsinki
France
CHNO des Quinze-Vingts
RECRUITING
Paris
Israel
Hadassah-Hebrew University Medical Center
RECRUITING
Jerusalem
Italy
Vista Vision Eye Clinic
RECRUITING
Brescia
Mexico
Retina and Genomics Institute
RECRUITING
Yucatán
Netherlands
Radboud University Medical Center
RECRUITING
Nijmegen
Norway
Oslo University Hospital
NOT_YET_RECRUITING
Oslo
Switzerland
University Hospital Basel
RECRUITING
Basel
University Hospital Jules-Gonin
RECRUITING
Lausanne
United Kingdom
Moorfields Eye Hospital
RECRUITING
London
Contact Information
Primary
Coordinating Center
ffb@jaeb.org
813-975-8690
Time Frame
Start Date: 2023-05-11
Estimated Completion Date: 2030-12-15
Participants
Target number of participants: 1500
Treatments
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.
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
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
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)
Sponsors
Collaborators: Foundation Fighting Blindness
Leads: Jaeb Center for Health Research

This content was sourced from clinicaltrials.gov