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WGS of Korean Idiopathic Bronchiectasis (WGS_UNK_BE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03809091
Recruitment Status : Recruiting
First Posted : January 18, 2019
Last Update Posted : January 25, 2019
Information provided by (Responsible Party):
Jae-Joon Yim, 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.

Condition or disease Intervention/treatment
Bronchiectasis Idiopathic Cystic Fibrosis Primary Ciliary Dyskinesia Diagnostic Test: Whole genome sequencing

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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 20 participants
Observational Model: Family-Based
Time Perspective: Prospective
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

Group/Cohort Intervention/treatment
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.

Primary Outcome Measures :
  1. 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
DNA will be extracted from whole blood samples of patients and their family.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Among the patients visiting Seoul National Univerisity Hospital outpatient clinic, bronchiectasis patients who have no clear etiology of bronchiectasis and their family will be enrolled.

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.

Information from the National Library of Medicine

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 identifier (NCT number): NCT03809091

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Contact: Jae-June Yim, MD +82-2-2072-2059

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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   
Sponsors and Collaborators
Seoul National University Hospital
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Principal Investigator: Jae-June Yim, MD Division of Pulmonology and Critical Care Medicine, Seoul National University College of Medicine

Additional Information:

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Responsible Party: Jae-Joon Yim, Professor, Seoul National University Hospital Identifier: NCT03809091     History of Changes
Other Study ID Numbers: WGS_UNK_BE
First Posted: January 18, 2019    Key Record Dates
Last Update Posted: January 25, 2019
Last Verified: January 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Cystic Fibrosis
Ciliary Motility Disorders
Kartagener Syndrome
Pancreatic Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms
Bronchial Diseases
Otorhinolaryngologic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Respiratory System Abnormalities
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Situs Inversus