Condition or disease | Intervention/treatment |
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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 |
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 |
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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.
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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.
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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 |
Inclusion Criteria:
Exclusion Criteria:
Contact: Jae-June Yim, MD | +82-2-2072-2059 | yimjj@snu.ac.kr |
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 |
Principal Investigator: | Jae-June Yim, MD | Division of Pulmonology and Critical Care Medicine, Seoul National University College of Medicine |
Tracking Information | |||||
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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 |
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.
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Original Primary Outcome Measures |
Disease-causing variants [ Time Frame: At the time of enrollement ] SNP and indels segregated only in patients will be analysed.
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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. |
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Study Type | Observational [Patient Registry] | ||||
Study Design | Observational Model: Family-Based Time Perspective: Prospective |
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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.
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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 |
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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.
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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
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Publications * |
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||
Recruitment Status | Recruiting | ||||
Estimated Enrollment |
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:
Exclusion Criteria:
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Sex/Gender |
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Ages | 18 Years and older (Adult, Older Adult) | ||||
Accepts Healthy Volunteers | No | ||||
Contacts |
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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 |
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IPD Sharing Statement |
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Responsible Party | Jae-Joon Yim, Seoul National University Hospital | ||||
Study Sponsor | Seoul National University Hospital | ||||
Collaborators | Not Provided | ||||
Investigators |
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PRS Account | Seoul National University Hospital | ||||
Verification Date | January 2019 |