Study on the Effects of Mutations Under Inherited Retinal Disease in Korean

Inherited Retinal Dystrophy Primarily Involving Sensory Retina Clinical Trial

Official title:
Study on the Effects of Mutations Under Inherited Retinal Disease in Korean

Status Completed

Clinical Trial Summary

To develop comprehensive genetic maps of inherited retinal diseases in Korean - Establishment of comprehensive genetic database in Koreans with inherited retinal diseases including frequently mutated genes, genotype-phenotype correlations, and visual prognosis."

Clinical Trial Description

Group/ Cohort Label : Subject with age between 6 months and 65 years who have not receive molecular genetic testing Group / Cohort Description : Consecutive subjects with inherited retinal disease who are willing to do genetic testing using whole exome sequencing (n=265) and whole genome sequencing (n=15) and agree to informed consent of the study ;

Study Design

Related Conditions & MeSH terms

Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium
Inherited Retinal Dystrophy Primarily Involving Sensory Retina
Retinal Diseases
Retinal Dystrophies

Clinical Trial Details

NCT number	NCT03613948
Study type	Observational
Source	Gangnam Severance Hospital
Contact
Status	Completed
Phase
Start date	April 10, 2018
Completion date	January 20, 2021

View Details

See also
Status	Clinical Trial	Phase
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Recruiting	`NCT05626920` - Disulfiram for Treatment of Retinal Degeneration	Phase 1/Phase 2