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

This study is currently recruiting participants.
See Contacts and Locations
Verified July 2016 by Edwin K. Silverman, Brigham and Women's Hospital
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Edwin K. Silverman, Brigham and Women's Hospital Identifier:
First received: August 6, 2010
Last updated: July 18, 2016
Last verified: July 2016
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.

Chronic Obstructive Pulmonary Disease

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Genetic Epidemiology of Severe, Early-Onset Chronic Obstructive Pulmonary Disease

Resource links provided by NLM:

Further study details as provided by Edwin K. Silverman, Brigham and Women's Hospital:

Primary Outcome Measures:
  • 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

Estimated Enrollment: 2000
Study Start Date: July 1994
Estimated Study Completion Date: July 2018
Estimated Primary Completion Date: July 2018 (Final data collection date for primary outcome measure)
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.

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.


Ages Eligible for Study:   Child, Adult, Senior
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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01177618

Contact: Edwin K. Silverman, M.D., Ph.D. 617-525-2128

United States, Massachusetts
Brigham and Women's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Cherie Maguire    617-525-2075   
Contact: Sandra Melanson    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)
Principal Investigator: Edwin K. Silverman, M.D., Ph.D. Brigham and Women's Hospital
  More Information


Responsible Party: Edwin K. Silverman, Professor of Medicine, Brigham and Women's Hospital Identifier: NCT01177618     History of Changes
Obsolete Identifiers: NCT00106444
Other Study ID Numbers: 1437
R01HL113264 ( U.S. NIH Grant/Contract )
R01HL089856 ( U.S. NIH Grant/Contract )
Study First Received: August 6, 2010
Last Updated: July 18, 2016
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.

Keywords provided by Edwin K. Silverman, Brigham and Women's Hospital:
Chronic Obstructive Pulmonary Disease
Chronic Bronchitis
Association Studies

Additional relevant MeSH terms:
Lung Diseases
Lung Diseases, Obstructive
Pulmonary Disease, Chronic Obstructive
Respiratory Tract Diseases processed this record on September 21, 2017