Status:
UNKNOWN
WGS of Korean Idiopathic Bronchiectasis
Lead Sponsor:
Seoul National University Hospital
Conditions:
Bronchiectasis Idiopathic
Cystic Fibrosis
Eligibility:
All Genders
18+ years
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...
Eligibility Criteria
Inclusion
- 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
- If the patient does not agree or withdraw
- If the patient has any clear etiology causing bronchiectasis including AIDS, malignancy, receiving immunosuppressant or chemotherapy.
Key Trial Info
Start Date :
January 1 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2021
Estimated Enrollment :
20 Patients enrolled
Trial Details
Trial ID
NCT03809091
Start Date
January 1 2019
End Date
December 1 2021
Last Update
January 25 2019
Active Locations (1)
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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, South Korea, 110-744