Clinical trial NCT03613948: Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
Official title: Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Inherited Retinal Dystrophy Primarily Involving Sensory Retina
Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium
Lead sponsor: Gangnam Severance Hospital
Sponsor class: OTHER
First posted: 2018-08-03
Enrollment: 280
Sex: ALL
Minimum age (years): 4
Maximum age (years): 75
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
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"

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

Eligibility criteria: 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

Primary outcomes:
measure: Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease
timeFrame: 3 years (until December 31, 2020)
Secondary outcomes:
measure: Diagnostic rate of whole genome sequencing (n=15) in Koreans with inherited retinal disease
timeFrame: 3 years (until December 31, 2020)
Other outcomes:
Locations:
city: Seoul
country: Korea, Republic of
facility: Gangnam Severance Hospital
Study officials:
affiliation: Gangnam Severance Hospital
name: Jinu Han
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.