- Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants — Recruiting • Rare Diseases • NCT05589714.
- 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….
- Sponsor: Jaeb Center for Health Research.
Verify eligibility, endpoints and current status on the original source registry before acting on this summary.
- Quick orientation before opening the registry record.
- Checking recruitment status, phase and sponsor at a glance.
- Connecting this trial to nearby guidelines, Drug Science and education.
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 -…
- : Participants must meet all the following inclusion criteria at the Registry/Screening Visit to be eligible to enroll into the genetic screening phase: 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): 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: 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…
Use the source registry for the full inclusion and exclusion criteria before discussing referral or enrolment.