Study on the Effects of Mutations Under Inherited Retinal... | NCT03613948

NCT03613948

Protocol Section

Identification Module

Results Section

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Annotation Section

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Document Section

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Derived Section

Miscellaneous Info Module

Status Module

Oversight Module

Description Module

Design Module

Interventional Study Design

Biospecimen

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Measure	Description	Time Frame
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.

Eligibility Module

Name	Affiliation	Role
Jinu Han	Gangnam Severance Hospital	Principal Investigator

Facility	Status	City	State	ZIP	Country	Contacts
Gangnam Severance Hospital		Seoul		06230	South Korea

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
28559085	Result	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.