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Pulmonary Disease, Chronic ObstructiveCOPDGeneNCT00608764

Examining the Genetic Factors That May Cause Chronic Obstructive Pulmonary Disease (COPD)

An observational study of Pulmonary Disease, Chronic Obstructive and Emphysema, run by Brigham and Women's Hospital at 20 sites in United States.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Official record
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Trial summary

Chronic obstructive pulmonary disease (COPD) is a long-term lung disease that is often caused by cigarette smoking. The purpose of this study is to evaluate whether certain genetic factors predispose some smokers to develop COPD more than others. Read more about this study

Who is it for?
Ages 45 to 80 yearsHealthy volunteers can take part
How many people
10,718 participants
Where
20 sitesUnited States
Study dates
Nov 2007to Aug 2028
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 45 to 80 years
  • All sexes
  • Healthy volunteers accepted
  • Adult, Older adult

Study population: Particpants with COPD will include outpatient clinic patients, patients in registries, previous study participants, and COPD Foundation volunteers. Participants without COPD will include spouses and friends of study participants with COPD and patients at primary care practices.

Who may be able to join

  • At least 10 pack-years of cigarette smoking (although a of nonsmoking controls is also being enrolled)
  • Self-designation of non-Hispanic white or African-American

Who cannot join

  • Other lung diseases (except for asthma in participants with COPD)
  • Pregnant
  • Cancer (other than skin cancer) in the 5 years prior to study entry
  • Received antibiotics for a COPD exacerbation in the 1 month prior to study entry
  • First- or second-degree relative of a previously enrolled study participant

Trial locations and contacts

20 sites in 1 country.

20 sites in 1 country

United States20 sites
  • Ann Arbor VA Medical Center

    Ann Arbor, Michigan, 48105

  • University of Michigan

    Ann Arbor, Michigan, 48109

  • Morehouse School of Medicine

    Atlanta, Georgia, 30310

  • Johns Hopkins University

    Baltimore, Maryland, 21224

  • University of Alabama at Birmingham

    Birmingham, Alabama, 35249

  • Brigham and Women's Hospital

    Boston, Massachusetts, 02115

  • National Jewish Health

    Denver, Colorado, 80206

  • Duke University

    Durham, North Carolina, 27710

  • Baylor College of Medicine

    Houston, Texas, 77030

  • University of Iowa

    Iowa City, Iowa, 52242

  • Minneapolis VA Medical Center

    Minneapolis, Minnesota, 55417

  • HealthPartners Research Foundation

    Minneapolis, Minnesota, 55440

  • University of Minnesota

    Minneapolis, Minnesota, 55455

  • Columbia University Medical Center

    New York, New York, 10032

  • Temple University

    Philadelphia, Pennsylvania, 19140

  • University of Pittsburgh

    Pittsburgh, Pennsylvania, 15232

  • University of Texas Health Sciences Center at San Antonio

    San Antonio, Texas, 78229

  • University of California at San Diego

    San Diego, California, 92103

  • Los Angeles Biomedical Research Institute

    Torrance, California, 90502

  • Reliant Medical Group

    Worcester, Massachusetts, 01608

Other trials in United States

About this study

Official title: Genetic Epidemiology of Chronic Obstructive Pulmonary Disease (COPDGene)

Chronic obstructive pulmonary disease (COPD) is a long-term lung disease that is often caused by cigarette smoking. The purpose of this study is to evaluate whether certain genetic factors predispose some smokers to develop COPD more than others.

Read the detailed description

COPD is a disease in which the lung airways are damaged and partly obstructed, making it difficult to breathe. Millions of people in the United States have COPD, and it is the third leading cause of death in the United States. Symptoms include coughing, excess mucus production, shortness of breath, wheezing, and chest tightness. Emphysema and long-term bronchitis are the two most common manifestations of the disease. The most common risk factor for developing COPD is cigarette smoking; however, only 15% to 20% of smokers develop COPD in their lifetimes. It is not known why some smokers develop COPD and some do not, but certain genetic factors, combined with exposure to cigarette smoke, may increase the likelihood of developing COPD. This study will analyze DNA from current and former cigarette smokers to identify genetic factors and markers that may indicate a predisposition to developing COPD.

This study will enroll African-American and white cigarette smokers and former cigarette smokers both with and without COPD. Participants will attend one study visit during which they will complete questionnaires about lung symptoms, breathing difficulties, medical and family history, and quality of life. They will also undergo blood collection, a physical exam, lung function testing, and a walking test to measure endurance. Participants will undergo a high resolution computed tomography (CT) chest scan and a medical record review. Study researchers will contact participants up to four times a year for 15 years to collect follow-up medical information. Five-year, ten-year, and fifteen-year follow-up visits including a similar study protocol as the baseline visit will be performed on all available subjects.

Keywords
Chronic Obstructive Pulmonary Disease, COPD, Emphysema, Chronic Bronchitis, Genetics, Association Studies, Computed Tomography
Medical subject headings
Pulmonary Disease, Chronic Obstructive, Emphysema, Bronchitis, Chronic

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT00608764
Study groupRoleWhat they receive
NHW COPD ParticipantsNon-Hispanic white participants with COPD
NHW Control GroupNon-Hispanic white participants with normal spirometry (do not have COPD)
AA COPD ParticipantsAfrican-American participants with COPD
AA Control GroupAfrican-American participants with normal spirometry (do not have COPD)

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Forced expiratory volume in 1 second (FEV1)

    Measured: Measured at baseline

  2. Emphysema, as shown on chest CT scan

    Measured: Measured at baseline

  3. Airway wall thickness on chest CT scan

    Measured: Measured at baseline

  4. COPD status (COPD participants versus control group participants)

    Measured: Measured at baseline

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted6 Feb 2008 (estimated)
  2. Study startNov 2007
  3. Primary completionAug 2028 (estimated)
  4. Study completionAug 2028 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
10,718 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT00608764
Sponsor's protocol ID
1428
Other IDs
75N92023D00011-0-7, U01HL089856, U01HL089897
Acronym
COPDGene
Status last verified
Oct 2026
First submitted
28 Jan 2008
Last updated
21 Oct 2026
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
Yes: COPDGene phenotypic and genotypic data are available through dbGaP.

Publications

  • Xanthavanij N, Deshpande R, Yu J, Marchetti N, Garshick E, Blanc PD, Regan EA, Crapo JD, Silverman EK, Wan ES. Occupational Exposure to Dust and Fumes Increases Risk for Future Adverse Clinical Outcomes. Am J Respir Crit Care Med. 2026 Jun 26:aamag334. doi: 10.1093/ajrccm/aamag334. Online ahead of print.

    PubMed 42360751
  • Curiale AH, Niethammer M, San Jose Estepar R. Prediction of Lobar Emphysema Progression with a CT-Based Foundational Model. Radiology. 2026 May;319(2):e252958. doi: 10.1148/radiol.252958.

    PubMed 42188737
  • Moore JM, Pratte KA, Ferguson C, Casaburi R, Iskander B, Abbasi A, Alapati P, Chilukuri S, Narashim A, Budoff MJ, Rossiter HB. High agreement of coronary artery calcification scores between full-dose (6.5 mSv) and reduced-dose (1.5 mSv) chest computed tomography: A retrospective analysis of COPDGene. J Cardiovasc Comput Tomogr. 2026 May 18:S1934-5925(26)00094-8. doi: 10.1016/j.jcct.2026.04.008. Online ahead of print.

    PubMed 42150985
  • Zeng S, Guo C, Pratte KA, Luo G, Bowler RP, Arjomandi M. Plasma proteomic profiles of lung volume-based phenotypes in tobacco-exposed individuals without spirometric chronic obstructive pulmonary disease. Ann Am Thorac Soc. 2026 Jul 1;23(7):1033-1045. doi: 10.1093/annalsats/aaoag051.

    PubMed 41776818
  • Zhang C, Konigsberg IR, He Y, Zhang J, Chikowore T, Feldman WB, Hu X, Ding Y, Pasaniuc B, Chang D, Chen Q, Lasky-Su JA, Hecker J, Tobin MD, Chen J, Kalra S, Pratte KA, Im HK, Wan ES, Manichaikul A, Silverman EK, Bowler RP, Lange LA, Ortega VE, Martin AR, Cho MH, Moll MR. Multi-trait polygenic scores for COPD and COPD exacerbations implicate druggable proteins. JCI Insight. 2026 Feb 19;11(7):e199951. doi: 10.1172/jci.insight.199951. eCollection 2026 Apr 8.

    PubMed 41712304
  • Zhang C, Konigsberg IR, He Y, Zhang J, Chikowore T, Feldman WB, Hu X, Ding Y, Pasaniuc B, Chang D, Chen Q, Lasky-Su JA, Hecker J, Tobin MD, Chen J, Kalra S, Pratte KA, Im HK, Wan ES, Manichaikul A, Silverman EK, Bowler RP, Lange LA, Ortega VE, Martin AR, Cho MH, Moll MR. Multi-Trait Polygenic Scores for COPD and COPD Exacerbations Implicate Druggable Proteins. medRxiv [Preprint]. 2025 Aug 26:2025.08.22.25334001. doi: 10.1101/2025.08.22.25334001.

    PubMed 40909810
  • Phillips EK, Huang Y, Regan E, Make B, Strand M, Yohannes AM, Hanania NA, Bon J, Hoth KF, Crapo JD, Silverman EK, DeMeo DL. Frailty associates with respiratory exacerbations and mortality in the COPDGene cohort. Aging (Albany NY). 2025 Jul 3;17(7):1590-1623. doi: 10.18632/aging.206275. Epub 2025 Jul 3.

    PubMed 40622758
  • Awan HA, Chaudhary MFA, El-Sokkary AD, Hoffman EA, Comellas AP, Guo J, Barjaktarevic IZ, Barr RG, Bhatt SP, Bodduluri S, Bowler RP, Vargas Buonfiglio LG, Cooper CB, Fawzy A, Hastie AT, Labaki WW, Martinez FJ, Menchaca MG, O'Neal W, Paine R 3rd, Schroeder JD, Woodruff PG, Curtis JL, Reinhardt JM. Association of Lung Quantitative CT Scan Textures With Systemic Inflammation and Mortality in COPD. Chest. 2025 Nov;168(5):1107-1119. doi: 10.1016/j.chest.2025.04.017. Epub 2025 Apr 22.

    PubMed 40268239
  • Kalra S, Hobbs B, Hunninghake GM, Menon AA, Putman R, Cutting C, Hatabu H, Silverman EK, Wan E, Cho MH, Moll M. The Association of Interstitial Lung Abnormalities and Preserved Ratio Impaired Spirometry With Mortality. Chest. 2025 Jul;168(1):136-145. doi: 10.1016/j.chest.2025.02.002. Epub 2025 Feb 11.

    PubMed 39947315
  • Lee AN, Hsiao A, Hasenstab KA. Evaluating the Cumulative Benefit of Inspiratory CT, Expiratory CT, and Clinical Data for COPD Diagnosis and Staging through Deep Learning. Radiol Cardiothorac Imaging. 2024 Dec;6(6):e240005. doi: 10.1148/ryct.240005.

    PubMed 39665633
  • van der Veer T, Andrinopoulou ER, Braunstahl GJ, Charbonnier JP, Kim V, Latisenko R, Lynch DA, Tiddens H. Association between automatic AI-based quantification of airway-occlusive mucus plugs and all-cause mortality in patients with COPD. Thorax. 2025 Jan 17;80(2):105-108. doi: 10.1136/thorax-2024-221928.

    PubMed 39638548
  • Shirahata T, Enzer NA, Castro V, Chiles J, McDonald ML, Choi B, Diaz AA, Washko GR, San Jose Estepar R, Ash SY, Rahaghi FN. Effect of Common Medications on Longitudinal Pectoralis Muscle Area in Smokers. Chronic Obstr Pulm Dis. 2025 Jan 29;12(1):23-32. doi: 10.15326/jcopdf.2024.0557.

    PubMed 39636057
  • Bhatt SP, Nakhmani A, Sthanam V, Kizhakke Puliyakote A, Reinhardt JM, Bodduluri S. PiSlope: A New CT Metric for Quantifying Airway Remodeling in Chronic Obstructive Pulmonary Disease. Radiology. 2024 Nov;313(2):e240717. doi: 10.1148/radiol.240717.

    PubMed 39589239
  • Bell AJ, Ram S, Labaki WW, Murray S, Kazerooni EA, Galban S, Martinez FJ, Hatt CR, Wang JM, Ivanov V, McGettigan P, Khokhlovich E, Maiorino E, Suryadevara R, Boueiz A, Castaldi PJ, Mirkes EM, Zinovyev A, Gorban AN, Galban CJ, Han MK. Temporal Exploration of Chronic Obstructive Pulmonary Disease Phenotypes: Insights from the COPDGene and SPIROMICS Cohorts. Am J Respir Crit Care Med. 2025 Apr;211(4):569-576. doi: 10.1164/rccm.202401-0127OC.

    PubMed 39269427
  • Yang HM, Ryu MH, Carey VJ, Young K, Kinney GL, Dransfield MT, Wade RC, Wells JM, Budoff MJ, Castaldi PJ, Hersh CP, Silverman EK. Differential Association of COPD Subtypes With Cardiovascular Events and COPD Exacerbations. Chest. 2024 Dec;166(6):1360-1370. doi: 10.1016/j.chest.2024.07.148. Epub 2024 Jul 31.

    PubMed 39094733

Questions about this trial

What is this clinical trial studying?

An observational study of Pulmonary Disease, Chronic Obstructive and Emphysema, run by Brigham and Women's Hospital at 20 sites in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 2 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: under way, not looking for participants, as of the sponsor's last update on 21 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 20 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Forced expiratory volume in 1 second (FEV1) (time frame: Measured at baseline). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT00608764, which also lists 127 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Oct 2026.

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