WGS of Korean Idiopathic Bronchiectasis (WGS_UNK_BE)
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|ClinicalTrials.gov Identifier: NCT03809091|
Recruitment Status : Recruiting
First Posted : January 18, 2019
Last Update Posted : January 25, 2019
|Condition or disease||Intervention/treatment|
|Bronchiectasis Idiopathic Cystic Fibrosis Primary Ciliary Dyskinesia||Diagnostic Test: Whole genome sequencing|
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 Type :||Observational [Patient Registry]|
|Estimated Enrollment :||20 participants|
|Target Follow-Up Duration:||3 Years|
|Official Title:||Whole Genome Sequencing of Korean Patients With Idiopathic Bronchiectasis for Identification of Disease-Causing Variants|
|Estimated Study Start Date :||January 2019|
|Estimated Primary Completion Date :||August 2021|
|Estimated Study Completion Date :||December 2021|
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.
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.
- Number of diagnosed patients by using whole genome sequencing [ Time Frame: 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.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03809091
|Contact: Jae-June Yim, MDemail@example.com|
|Korea, Republic of|
|Division of Pulmonology and Critical Care Medicine, Department of Internal Medicine and Lung Institute of Medical Research Center, Seoul National University College of Medicine||Recruiting|
|Seoul, Korea, Republic of, 110-744|
|Contact: Jae-Joon Yim, MD +82-2-2072-2059 firstname.lastname@example.org|
|Principal Investigator:||Jae-June Yim, MD||Division of Pulmonology and Critical Care Medicine, Seoul National University College of Medicine|