WGS of Korean Idiopathic Bronchiectasis

NCT03809091 | Unknown

• 1 other identifier: WGS_UNK_BE
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

Whole genome sequencing of Korean patients with idiopathic bronchiectasis and their family will perform to identify disease-causing variants.

Conditions

Bronchiectasis Idiopathic; Cystic Fibrosis; Primary Ciliary Dyskinesia

Outcome Measures

Primary Outcomes (1)

• Number of diagnosed patients by using whole genome sequencing

  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.

  3 years

Study Arms (1)

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

Interventions

Whole genome sequencing DIAGNOSTIC_TEST

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.

Bronchiectasis

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Seoul National University Hospital: lead

Study Sites (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, 110-744, South Korea

RECRUITING

Related Publications (4)

• 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. No abstract available.

  PMID: 30545985 BACKGROUND

• 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.

  PMID: 26431397 BACKGROUND

• Chandrasekaran R, Mac Aogain 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.

  PMID: 29788932 BACKGROUND

• 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.

  PMID: 30304647 BACKGROUND

Related Links

• Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia, bioRxiv, 2018

Biospecimen

Retention: SAMPLES WITH DNA

DNA will be extracted from whole blood samples of patients and their family.

MeSH Terms

Conditions

Cystic Fibrosis; Ciliary Motility Disorders

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; Otorhinolaryngologic Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities

Study Officials

• Jae-June Yim, MD

  Division of Pulmonology and Critical Care Medicine, Seoul National University College of Medicine

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jae-June Yim, MD

CONTACT

+82-2-2072-2059; yimjj@snu.ac.kr

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: January 16, 2019
• First Posted: January 18, 2019
• Study Start: January 1, 2019
• Primary Completion: August 1, 2021
• Study Completion: December 1, 2021
• Last Updated: January 25, 2019

Record last verified: 2019-01

Data Sharing

• IPD Sharing: Will not share

Locations

KR (1)