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

Completed

• Conditions: Inherited Retinal Dystrophy Primarily Involving Sensory Retina; Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium

• Registration Number: NCT03613948
• Lead Sponsor: Gangnam Severance Hospital

Brief 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

Study Timeline

• Study Start: 2018-04-10
• Study First Submitted: 2018-04-10
• Study First Submitted QC: 2018-08-02
• Study First Posted: 2018-08-03
• Primary Completion: 2021-01-20
• Study Completion: 2021-01-20
• Status Verified: 2021-10
• Last Update Submitted: 2021-10-18
• Last Update Posted: 2021-10-25

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 280

Inclusion Criteria

• Inherited retinal disease
• Age between 4 months and 75 years
• Subject who has clinically confirmed visual impairment including night blindness or photophobia. Subject should meet one of the following criteria
• pigmentary retinopathy in both eyes
• reduced response in photopic or scotopic electroretinogram in both eyes
• photoreceptor degeneration in optical coherence tomography in both eyes

Exclusion Criteria

• unilateral retinal disease
• Subject who had previously confirmed genetic testing
• Age less than 4 months or more than 75 years
• When congenital infection or trauma are suspicious for the cause of retinal disease
• When age-related macular degeneration, myopic degeneration, autoimmune origin are suspicious for the cause of retinal disease
• No visual impairment or normal electroretinogram (e.g., benign fleck)
• Illiterate subject who can not understand informed consent
• Foreigners

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease	3 years (until December 31, 2020)	patients were grouped in 1) probable molecular diagnosis: patients with pathogenic or likely pathogenic disease-associated variant(s), 2) possible molecular diagnosis: patients with 2 heterozygous mutations without segregation analysis, or patients harboring a single pathogenic or likely pathogenic disease-associated variant in a gene linked with recessive traits, provided the patient phenotype matches the known spectrum of clinical features for this gene, 3) unsolved: all other patients for which no pathogenic or likely pathogenic disease-associated variants were detected.

Secondary Outcome Measures

Name	Time	Method
Diagnostic rate of whole genome sequencing (n=15) in Koreans with inherited retinal disease	3 years (until December 31, 2020)	patients were grouped in 1) probable molecular diagnosis: patients with pathogenic or likely pathogenic disease-associated variant(s), 2) possible molecular diagnosis: patients with 2 heterozygous mutations without segregation analysis, or patients harboring a single pathogenic or likely pathogenic disease-associated variant in a gene linked with recessive traits, provided the patient phenotype matches the known spectrum of clinical features for this gene, 3) unsolved: all other patients for which no pathogenic or likely pathogenic disease-associated variants were detected.

Trial Locations

Locations (1)

Gangnam Severance Hospital; 🇰🇷 Seoul, Korea, Republic of