WGS of Korean Idiopathic Bronchiectasis

• Conditions: Bronchiectasis Idiopathic; Cystic Fibrosis; Primary Ciliary Dyskinesia
• Interventions: Diagnostic Test: Whole genome sequencing

• Registration Number: NCT03809091
• Lead Sponsor: Seoul National University Hospital

Brief 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.

Study Timeline

• Status Verified: 2019-01
• Study Start: 2019-01
• Study First Submitted: 2019-01-16
• Study First Submitted QC: 2019-01-16
• Study First Posted: 2019-01-18
• Last Update Submitted: 2019-01-23
• Last Update Posted: 2019-01-25
• Primary Completion: 2021-08
• Study Completion: 2021-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

• If the patient has bronchiectasis proved by computed tomography (CT).
• The clinical features of the patient are suitable for ciliary dysfunction disease (primary ciliary dyskinesia, cystic fibrosis), alpha1-antitrypsin deficiency, and primary immune deficiency (hyper-immunoglobulin E syndrome, hypogammaglobulinemia, activated phosphoinositide 3-kinase (PI3K) delta syndrome, bare lymphocyte syndrome)
• The patient has no apparent medical events causing bronchiectasis.

Exclusion Criteria

• If the patient does not agree or withdraw
• If the patient has any clear etiology causing bronchiectasis including AIDS, malignancy, receiving immunosuppressant or chemotherapy.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Bronchiectasis	Whole genome sequencing	The patient with bronchiectasis who has no apparent bronchiectasis-causing etiology will be enrolled. The patient's family who has no bronchiectasis will be also enrolled to identify the patient-specific variants.

Primary Outcome Measures

Name	Time	Method
Number of diagnosed patients by using whole genome sequencing	3 years	The primary objective of this study is to evaluate the effectiveness of whole-genome sequencing (WGS) for idiopathic bronchiectasis patients in Korea. The number of patients newly diagnosed with WGS who are previously not diagnosed will be the primary outcome.

Trial Locations

Locations (1)

Division of Pulmonology and Critical Care Medicine, Department of Internal Medicine and Lung Institute of Medical Research Center, Seoul National University College of Medicine; 🇰🇷 Seoul, Korea, Republic of