NCT02832843

Brief Summary

The aim of this study was to elucidate genetic susceptibility of patients with nontuberculous mycobacterial lung disease using genome-wide association study.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
2,808

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jul 2016

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

July 3, 2016

Completed
8 days until next milestone

Study Start

First participant enrolled

July 11, 2016

Completed
3 days until next milestone

First Posted

Study publicly available on registry

July 14, 2016

Completed
1.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 20, 2017

Completed
1.9 years until next milestone

Study Completion

Last participant's last visit for all outcomes

October 3, 2019

Completed
Last Updated

December 13, 2019

Status Verified

December 1, 2019

Enrollment Period

1.4 years

First QC Date

July 3, 2016

Last Update Submit

December 12, 2019

Conditions

Mycobacterium Infections, Nontuberculous

Outcome Measures

Primary Outcomes (1)

  • Finding of single nucleotide polymorphisms (SNPs) associated with the risk of NTM lung disease compared with controls

    To identify SNPs related to NTM lung disease using logistic regression after controlling for confounders (GWAS statistical significance threshold, P \< 5.00\*E-08)

    Baseline

Secondary Outcomes (3)

  • Finding of SNPs associated with the risk of severe NTM lung disease compared with controls

    Baseline

  • Finding of SNPs associated with the risk of severe NTM lung disease compared with mild NTM lung disease

    Baseline

  • Finding of SNPs associated with the risk of Mycobacterium avium complex lung disease versus M. abscessus lung disease versus controls

    Baseline

Study Arms (2)

NTM lung disease

Patients with NTM lung disease satisfying American Thoracic Society guidelines

Healthy control

The age-, sex-matched control subjects without pulmonary diseases

Eligibility Criteria

Age18 Years - 75 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with NTM lung diseases and healthy control

You may qualify if:

  • Case: Patients with NTM lung disease satisfying diagnostic criteria suggested by American Thoracic Society
  • Control: Healthy subjects enrolled in the Korean Healthy Twin Study

You may not qualify if:

  • Case: none
  • Control: 1) Subjects who have respiratory symptoms including cough and sputum 2) Subjects who have abnormalities on chest radiography

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Seoul National University Hospital

Seoul, 110-744, South Korea

Location

Related Publications (12)

  • Park YS, Lee CH, Lee SM, Yang SC, Yoo CG, Kim YW, Han SK, Shim YS, Yim JJ. Rapid increase of non-tuberculous mycobacterial lung diseases at a tertiary referral hospital in South Korea. Int J Tuberc Lung Dis. 2010 Aug;14(8):1069-71.

    PMID: 20626955BACKGROUND

  • Yim JJ, Kim HJ, Kwon OJ, Koh WJ. Association between microsatellite polymorphisms in intron II of the human Toll-like receptor 2 gene and nontuberculous mycobacterial lung disease in a Korean population. Hum Immunol. 2008 Sep;69(9):572-6. doi: 10.1016/j.humimm.2008.06.003. Epub 2008 Jul 3.

    PMID: 18602432BACKGROUND

  • Kim RD, Greenberg DE, Ehrmantraut ME, Guide SV, Ding L, Shea Y, Brown MR, Chernick M, Steagall WK, Glasgow CG, Lin J, Jolley C, Sorbara L, Raffeld M, Hill S, Avila N, Sachdev V, Barnhart LA, Anderson VL, Claypool R, Hilligoss DM, Garofalo M, Fitzgerald A, Anaya-O'Brien S, Darnell D, DeCastro R, Menning HM, Ricklefs SM, Porcella SF, Olivier KN, Moss J, Holland SM. Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome. Am J Respir Crit Care Med. 2008 Nov 15;178(10):1066-74. doi: 10.1164/rccm.200805-686OC. Epub 2008 Aug 14.

    PMID: 18703788BACKGROUND

  • Lee AR, Lee J, Choi SM, Seong MW, Kim SA, Kim M, Chae KO, Lee JS, Yim JJ. Phenotypic, immunologic, and clinical characteristics of patients with nontuberculous mycobacterial lung disease in Korea. BMC Infect Dis. 2013 Nov 25;13:558. doi: 10.1186/1471-2334-13-558.

    PMID: 24274658BACKGROUND

  • Kim J, Seong MW, Kim EC, Han SK, Yim JJ. Frequency and clinical implications of the isolation of rare nontuberculous mycobacteria. BMC Infect Dis. 2015 Jan 9;15:9. doi: 10.1186/s12879-014-0741-7.

    PMID: 25572753BACKGROUND

  • Kwak N, Lee CH, Lee HJ, Kang YA, Lee JH, Han SK, Yim JJ. Non-tuberculous mycobacterial lung disease: diagnosis based on computed tomography of the chest. Eur Radiol. 2016 Dec;26(12):4449-4456. doi: 10.1007/s00330-016-4286-6. Epub 2016 Mar 5.

    PMID: 26945763BACKGROUND

  • Hill AV. Evolution, revolution and heresy in the genetics of infectious disease susceptibility. Philos Trans R Soc Lond B Biol Sci. 2012 Mar 19;367(1590):840-9. doi: 10.1098/rstb.2011.0275.

    PMID: 22312051BACKGROUND

  • Sung J, Cho SI, Lee K, Ha M, Choi EY, Choi JS, Kim H, Kim J, Hong KS, Kim Y, Yoo KY, Park C, Song YM. Healthy Twin: a twin-family study of Korea--protocols and current status. Twin Res Hum Genet. 2006 Dec;9(6):844-8. doi: 10.1375/183242706779462822.

    PMID: 17254419BACKGROUND

  • Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol. 2010 Dec;34(8):816-34. doi: 10.1002/gepi.20533.

    PMID: 21058334BACKGROUND

  • Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 2009 Jun;5(6):e1000529. doi: 10.1371/journal.pgen.1000529. Epub 2009 Jun 19.

    PMID: 19543373BACKGROUND

  • 1000 Genomes Project Consortium; Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from population-scale sequencing. Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534.

    PMID: 20981092BACKGROUND

  • Ritchie MD, Hahn LW, Roodi N, Bailey LR, Dupont WD, Parl FF, Moore JH. Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am J Hum Genet. 2001 Jul;69(1):138-47. doi: 10.1086/321276. Epub 2001 Jun 11.

    PMID: 11404819BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Extraction of DNA will be conducted from serum of patients with NTM lung disease. For controls, preexisting dataset of GWAS will be used.

MeSH Terms

Conditions

Mycobacterium Infections, Nontuberculous

Condition Hierarchy (Ancestors)

Mycobacterium InfectionsActinomycetales InfectionsGram-Positive Bacterial InfectionsBacterial InfectionsBacterial Infections and MycosesInfections

Study Officials

  • Jae-Joon Yim, MD, PhD

    Seoul National University Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

July 3, 2016

First Posted

July 14, 2016

Study Start

July 11, 2016

Primary Completion

November 20, 2017

Study Completion

October 3, 2019

Last Updated

December 13, 2019

Record last verified: 2019-12

Data Sharing

IPD Sharing
Will not share

Locations

KR(1)