NCT03809091

WGS of Korean Idiopathic Bronchiectasis

Whole Genome Sequencing of Korean Patients With Idiopathic Bronchiectasis for Identification of Disease-Causing Variants

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 20 (estimated)
• Sponsor: Seoul National University Hospital · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

Whole genome sequencing of Korean patients with idiopathic bronchiectasis and their family will perform to identify disease-causing variants.

Detailed description

Idiopathic bronchiectasis may be a manifestation of genetic diseases such as cystic fibrosis, primary ciliary dyskinesia, etc. Diagnosis of these rare genetic diseases is crucial not only because some of the rare diseases developed already effective treatment options, but also the detection of syndrome enables us to detect other organ damages before the deterioration of them. Several diagnostic tools have been developed; however, the genetic panel has limited screening efficacy due to the genetic heterogeneity of diseases. Even more, especially in Korea, the incidence of idiopathic bronchiectasis caused by the genetic disease is rare, most clinics have limited to assess specialized diagnostic tools such as the specialized genetic panels, sweat chloride test, and the electromagnetic detection tools for ciliary movement. Whole genome sequencing may be an excellent solution to identify the neglected genetic diseases causing idiopathic bronchiectasis and explore the heterogeneity of disease-causing variants in Korean patients.

Conditions

• Bronchiectasis Idiopathic
• Cystic Fibrosis
• Primary Ciliary Dyskinesia

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Whole genome sequencing	Whole genome sequencing of patients and their family will be performed. Among the variants detected by WGS, disease-causing variants will be analyzed by using segregation analysis.

Timeline

• Start date: 2019-01-01
• Primary completion: 2021-08-01
• Completion: 2021-12-01
• First posted: 2019-01-18
• Last updated: 2019-01-25

Locations

1 site across 1 country: South Korea