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

Inherited Retinal Dystrophy Primarily Involving Sensory Retina Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03613948
• Other study ID #: 3-2018-0026
• Status: Completed
• Start date: April 10, 2018
• Est. completion date: January 20, 2021

Study information

• Verified date: October 2021
• Source: Gangnam Severance Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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."

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 280
• Est. completion date: January 20, 2021
• Est. primary completion date: January 20, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 4 Months to 75 Years

Eligibility

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

Related Conditions & MeSH terms

• Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium
• Inherited Retinal Dystrophy Primarily Involving Sensory Retina
• Retinal Diseases
• Retinal Dystrophies

Locations

Country	Name	City	State
Korea, Republic of	Gangnam Severance Hospital	Seoul

Sponsors (1)

Lead Sponsor	Collaborator
Gangnam Severance Hospital

Country where clinical trial is conducted

Korea, Republic of, 

References & 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 — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Diagnostic rate of whole genome sequencing (n=15) 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)