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Completed

NCT Number: NCT03613948

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

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."

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Key information

Conditions

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

Age range

4 month–75 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Gangnam Severance Hospital

Seoul, 06230, South Korea

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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

    Time frame: 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 outcomes

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

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Gangnam Severance Hospital

Other

Registry information

Important dates

Study start
2018
Primary completion
2021
Study completion
2021
First posted
Aug 3, 2018
Registry last updated
Oct 25, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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