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

Sponsor
Gangnam Severance Hospital (Other)
Overall Status
Completed
CT.gov ID
NCT03613948
Collaborator
(none)
280
1
33.4
8.4

Study Details

Study Description

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 Design

Study Type:
Observational
Actual Enrollment :
280 participants
Observational Model:
Case-Only
Time Perspective:
Cross-Sectional
Official Title:
Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
Actual Study Start Date :
Apr 10, 2018
Actual Primary Completion Date :
Jan 20, 2021
Actual Study Completion Date :
Jan 20, 2021

Outcome Measures

Primary Outcome Measures

  1. 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

  1. 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.

Eligibility Criteria

Criteria

Ages Eligible for Study:
4 Months to 75 Years
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
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

Contacts and Locations

Locations

Site City State Country Postal Code
1 Gangnam Severance Hospital Seoul Korea, Republic of 06230

Sponsors and Collaborators

  • Gangnam Severance Hospital

Investigators

  • Principal Investigator: Jinu Han, Gangnam Severance Hospital

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.
Responsible Party:
Jinu Han, Associate Professor, Gangnam Severance Hospital
ClinicalTrials.gov Identifier:
NCT03613948
Other Study ID Numbers:
  • 3-2018-0026
First Posted:
Aug 3, 2018
Last Update Posted:
Oct 25, 2021
Last Verified:
Oct 1, 2021
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No
Additional relevant MeSH terms:

Study Results

No Results Posted as of Oct 25, 2021