Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
NCT ID: NCT03613948
Last Updated: 2021-10-25
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
COMPLETED
280 participants
OBSERVATIONAL
2018-04-10
2021-01-20
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
* Establishment of comprehensive genetic database in Koreans with inherited retinal diseases including frequently mutated genes, genotype-phenotype correlations, and visual prognosis."
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
CASE_ONLY
CROSS_SECTIONAL
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* 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
* 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
4 Months
75 Years
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Gangnam Severance Hospital
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Jinu Han
Associate Professor
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Jinu Han
Role: PRINCIPAL_INVESTIGATOR
Gangnam Severance Hospital
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Gangnam Severance Hospital
Seoul, , South Korea
Countries
Review the countries where the study has at least one active or historical site.
References
Explore related publications, articles, or registry entries linked to this study.
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.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
3-2018-0026
Identifier Type: -
Identifier Source: org_study_id