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

September 16, 2025 updated by: Edwin K. Silverman, Brigham and Women's Hospital

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.

Study Overview

Status

Active, not recruiting

Conditions

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.

Study Type

Observational

Enrollment (Actual)

10718

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

United States
- Alabama
  - Birmingham, Alabama, United States, 35249
    - University of Alabama at Birmingham
- California
  - San Diego, California, United States, 92103
    - University of California at San Diego
  - Torrance, California, United States, 90502
    - Los Angeles Biomedical Research Institute
- Colorado
  - Denver, Colorado, United States, 80206
    - National Jewish Health
- Georgia
  - Atlanta, Georgia, United States, 30310
    - Morehouse School of Medicine
- Iowa
  - Iowa City, Iowa, United States, 52242
    - University of Iowa
- Maryland
  - Baltimore, Maryland, United States, 21224
    - Johns Hopkins University
- Massachusetts
  - Boston, Massachusetts, United States, 02115
    - Brigham and Women's Hospital
  - Worcester, Massachusetts, United States, 01608
    - Reliant Medical Group
- Michigan
  - Ann Arbor, Michigan, United States, 48109
    - University of Michigan
  - Ann Arbor, Michigan, United States, 48105
    - Ann Arbor VA Medical Center
- Minnesota
  - Minneapolis, Minnesota, United States, 55440
    - HealthPartners Research Foundation
  - Minneapolis, Minnesota, United States, 55455
    - University of Minnesota
  - Minneapolis, Minnesota, United States, 55417
    - Minneapolis VA Medical Center
- New York
  - New York, New York, United States, 10032
    - Columbia University Medical Center
- North Carolina
  - Durham, North Carolina, United States, 27710
    - Duke University
- Pennsylvania
  - Philadelphia, Pennsylvania, United States, 19140
    - Temple University
  - Pittsburgh, Pennsylvania, United States, 15232
    - University of Pittsburgh
- Texas
  - Houston, Texas, United States, 77030
    - Baylor College of Medicine
  - San Antonio, Texas, United States, 78229
    - University of Texas Health Sciences Center at San Antonio

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

45 years to 80 years (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

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.

Description

Inclusion Criteria:

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

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort
NHW COPD Participants Non-Hispanic white participants with COPD
NHW Control Group Non-Hispanic white participants with normal spirometry (do not have COPD)
AA COPD Participants African-American participants with COPD
AA Control Group African-American participants with normal spirometry (do not have COPD)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Forced expiratory volume in 1 second (FEV1) Time Frame: Measured at baseline	Measured at baseline
Emphysema, as shown on chest CT scan Time Frame: Measured at baseline	Measured at baseline
Airway wall thickness on chest CT scan Time Frame: Measured at baseline	Measured at baseline
COPD status (COPD participants versus control group participants) Time Frame: Measured at baseline	Measured at baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Brigham and Women's Hospital

Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Investigators

Principal Investigator: James D. Crapo, MD, National Jewish Health
Principal Investigator: Edwin K. Silverman, MD, PhD, Brigham and Women's Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 1, 2007

Primary Completion (Estimated)

August 1, 2028

Study Completion (Estimated)

August 1, 2028

Study Registration Dates

First Submitted

January 28, 2008

First Submitted That Met QC Criteria