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出境医 / 临床实验 / WGS of Korean Idiopathic Bronchiectasis (WGS_UNK_BE)

WGS of Korean Idiopathic Bronchiectasis (WGS_UNK_BE)

Study Description
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.

Study Design
Layout table for study information
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
Arms and Interventions
Group/Cohort Intervention/treatment
Bronchiectasis
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.

Outcome Measures
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.

Eligibility Criteria
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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.
Criteria

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.
Contacts and Locations

Contacts
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Contact: Jae-June Yim, MD +82-2-2072-2059 yimjj@snu.ac.kr

Locations
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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    yimjj@snu.ac.kr   
Sponsors and Collaborators
Seoul National University Hospital
Investigators
Layout table for investigator information
Principal Investigator: Jae-June Yim, MD Division of Pulmonology and Critical Care Medicine, Seoul National University College of Medicine
Tracking Information
First Submitted Date January 16, 2019
First Posted Date January 18, 2019
Last Update Posted Date January 25, 2019
Estimated Study Start Date January 2019
Estimated Primary Completion Date August 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 23, 2019)
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.
Original Primary Outcome Measures
 (submitted: January 16, 2019)
Disease-causing variants [ Time Frame: At the time of enrollement ]
SNP and indels segregated only in patients will be analysed.
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title WGS of Korean Idiopathic Bronchiectasis
Official Title Whole Genome Sequencing of Korean Patients With Idiopathic Bronchiectasis for Identification of Disease-Causing Variants
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 Type Observational [Patient Registry]
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration 3 Years
Biospecimen Retention:   Samples With DNA
Description:
DNA will be extracted from whole blood samples of patients and their family.
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.
Condition
  • Bronchiectasis Idiopathic
  • Cystic Fibrosis
  • Primary Ciliary Dyskinesia
Intervention 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.
Study Groups/Cohorts Bronchiectasis
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.
Intervention: Diagnostic Test: Whole genome sequencing
Publications *
  • Hill AT, Sullivan AL, Chalmers JD, De Soyza A, Elborn SJ, Floto AR, Grillo L, Gruffydd-Jones K, Harvey A, Haworth CS, Hiscocks E, Hurst JR, Johnson C, Kelleher PW, Bedi P, Payne K, Saleh H, Screaton NJ, Smith M, Tunney M, Whitters D, Wilson R, Loebinger MR. British Thoracic Society Guideline for bronchiectasis in adults. Thorax. 2019 Jan;74(Suppl 1):1-69. doi: 10.1136/thoraxjnl-2018-212463.
  • Lonni S, Chalmers JD, Goeminne PC, McDonnell MJ, Dimakou K, De Soyza A, Polverino E, Van de Kerkhove C, Rutherford R, Davison J, Rosales E, Pesci A, Restrepo MI, Torres A, Aliberti S. Etiology of Non-Cystic Fibrosis Bronchiectasis in Adults and Its Correlation to Disease Severity. Ann Am Thorac Soc. 2015 Dec;12(12):1764-70. doi: 10.1513/AnnalsATS.201507-472OC.
  • Chandrasekaran R, Mac Aogáin M, Chalmers JD, Elborn SJ, Chotirmall SH. Geographic variation in the aetiology, epidemiology and microbiology of bronchiectasis. BMC Pulm Med. 2018 May 22;18(1):83. doi: 10.1186/s12890-018-0638-0. Review.
  • Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: January 16, 2019)
20
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2021
Estimated Primary Completion Date August 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

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.
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Jae-June Yim, MD +82-2-2072-2059 yimjj@snu.ac.kr
Listed Location Countries Korea, Republic of
Removed Location Countries  
 
Administrative Information
NCT Number NCT03809091
Other Study ID Numbers WGS_UNK_BE
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Jae-Joon Yim, Seoul National University Hospital
Study Sponsor Seoul National University Hospital
Collaborators Not Provided
Investigators
Principal Investigator: Jae-June Yim, MD Division of Pulmonology and Critical Care Medicine, Seoul National University College of Medicine
PRS Account Seoul National University Hospital
Verification Date January 2019