Trials / Completed
CompletedNCT03613948
Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
- Status
- Completed
- Phase
- —
- Study type
- Observational
- Enrollment
- 280 (actual)
- Sponsor
- Gangnam Severance Hospital · Academic / Other
- Sex
- All
- Age
- 4 Months – 75 Years
- Healthy volunteers
- Not accepted
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."
Detailed 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
Conditions
- Inherited Retinal Dystrophy Primarily Involving Sensory Retina
- Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium
Timeline
- Start date
- 2018-04-10
- Primary completion
- 2021-01-20
- Completion
- 2021-01-20
- First posted
- 2018-08-03
- Last updated
- 2021-10-25
Locations
1 site across 1 country: South Korea
Source: ClinicalTrials.gov record NCT03613948. Inclusion in this directory is not an endorsement.