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

NCT03613948 | Completed

• 1 other identifier: 3-2018-0026
• Study Type: observational
• Target: 280
• Locations: 1 country
• Sites: 1

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."

Conditions

Inherited Retinal Dystrophy Primarily Involving Sensory Retina; Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium

Outcome Measures

Primary Outcomes (1)

• Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease

  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.

  3 years (until December 31, 2020)

Secondary Outcomes (1)

• Diagnostic rate of whole genome sequencing (n=15) in Koreans with inherited retinal disease

  3 years (until December 31, 2020)

Eligibility Criteria

• Age: 4 Months - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

"Subject with inherited retinal disease, age between 6 months and 75 years who have not receive molecular genetic testing"

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Gangnam Severance Hospital: lead

Study Sites (1)

Gangnam Severance Hospital

Seoul, 06230, South Korea

Location

Related Publications (1)

• Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27.

  PMID: 28559085 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Blood DNA samples

Study Officials

• Jinu Han

  Gangnam Severance Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: April 10, 2018
• First Posted: August 3, 2018
• Study Start: April 10, 2018
• Primary Completion: January 20, 2021
• Study Completion: January 20, 2021
• Last Updated: October 25, 2021

Record last verified: 2021-10

Locations

KR (1)