Try the modernized beta website. Learn more about the modernization effort.
Working… Menu

Boston Early-Onset Chronic Obstructive Pulmonary Disease (COPD) Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01177618
Recruitment Status : Recruiting
First Posted : August 9, 2010
Last Update Posted : July 23, 2021
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Edwin K. Silverman, Brigham and Women's Hospital

Brief Summary:
Chronic obstructive pulmonary disease (COPD) is often caused by cigarette smoking, but genetic predisposition also influences COPD susceptibility. The purpose of this study is to identify genetic factors that predispose some individuals to develop COPD.

Condition or disease
Chronic Obstructive Pulmonary Disease

Detailed Description:

Chronic obstructive pulmonary disease (COPD), which is the third leading cause of death in the United States, affects millions of people around the world. COPD, which can include both emphysema and chronic bronchitis, affects the lungs making it very difficult to breathe. Cigarette smoking is the most common risk factor for developing COPD; however, only 15% to 20% of smokers develop COPD in their lifetimes. The onset of COPD also varies greatly from person to person; while some people do not develop respiratory symptoms until later in life, there are others who develop severe COPD at a very early age. Prior research has led to the discovery of the alpha-1 antitrypsin protein deficiency in association with COPD development. This discovery has generated further interest toward studying other genetic factors which may also affect an individual's likelihood of developing COPD. Therefore, the purpose of the Boston Early-Onset COPD study is to gain a better understanding of COPD risk factors in order to establish new possible methods of treatment for people affected by COPD.

For this study we are enrolling individuals affected with severe COPD (52 years old or younger with an FEV1 < 40%) and their family members. Each participant will attend one study visit that involves a respiratory questionnaire, a breathing test, and blood draw. This visit can be completed at the participant's home, in the hospital, or by long distance data collection (phone interview, local breathing tests, and local blood draw with mailed samples), whichever is preferred.

Layout table for study information
Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Genetic Epidemiology of Severe, Early-Onset Chronic Obstructive Pulmonary Disease
Study Start Date : July 1994
Estimated Primary Completion Date : July 2022
Estimated Study Completion Date : July 2022

Resource links provided by the National Library of Medicine

MedlinePlus related topics: COPD Lung Diseases

Severe, early-onset COPD subjects that bring the family into the study
Relatives of early-onset COPD probands, including first-degree relatives (parents, siblings, and children), second-degree relatives (aunts, uncles, grandparents, half-siblings), spouses, and other affected individuals.

Primary Outcome Measures :
  1. No Primary Outcome [ Time Frame: Single Visit for approximately two hours to collect study data and samples ]
    Since this is an observational study, there are no primary outcomes

Biospecimen Retention:   Samples With DNA
DNA, Serum, Plasma, Buccal Brushings, and Urine

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Severe, early-onset COPD subjects and their relatives

Inclusion Criteria for Early-Onset COPD Probands:

  • Early onset of COPD in individuals younger than 53 years old
  • Spirometry results that are indicative of severe COPD (FEV1 < 40% predicted)
  • Physician-diagnosed COPD

Exclusion Criteria for Early-Onset COPD Probands:

  • Severe alpha-1 antitrypsin deficiency
  • Other chronic lung diseases in participants with COPD (except asthma)
  • Pregnant
  • Any previous lung surgery including lung transplant or lung reduction volume surgery (LVRS); unless prior Pulmonary Function Tests are available

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01177618

Layout table for location contacts
Contact: Edwin K. Silverman, M.D., Ph.D. 617-525-2128

Layout table for location information
United States, Massachusetts
Brigham and Women's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Edwin Silverman    617-525-0856   
Contact: Juliet Nabbosa    617-525-2128   
Principal Investigator: Edwin K. Silverman, M.D., Ph.D.         
Sub-Investigator: Dawn L. DeMeo, M.D.         
Sub-Investigator: Craig P. Hersh, M.D.         
Sponsors and Collaborators
Brigham and Women's Hospital
National Heart, Lung, and Blood Institute (NHLBI)
Layout table for investigator information
Principal Investigator: Edwin K. Silverman, M.D., Ph.D. Brigham and Women's Hospital
Publications of Results:

Layout table for additonal information
Responsible Party: Edwin K. Silverman, Professor of Medicine, Brigham and Women's Hospital Identifier: NCT01177618    
Obsolete Identifiers: NCT00106444
Other Study ID Numbers: 1437
U01HL089856 ( U.S. NIH Grant/Contract )
First Posted: August 9, 2010    Key Record Dates
Last Update Posted: July 23, 2021
Last Verified: July 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: For subjects approved for data sharing by our IRB, we will release genome sequencing data through dbGaP.
Supporting Materials: Analytic Code
Time Frame: dbGaP submission is being performed by TOPMed for eligible subjects. Although TOPMed controls this data release, it typically occurs within six months of data generation.
Access Criteria: Approval through dbGaP
Keywords provided by Edwin K. Silverman, Brigham and Women's Hospital:
Chronic Obstructive Pulmonary Disease
Chronic Bronchitis
Association Studies
Additional relevant MeSH terms:
Layout table for MeSH terms
Lung Diseases
Lung Diseases, Obstructive
Pulmonary Disease, Chronic Obstructive
Respiratory Tract Diseases