We updated the design of this site on September 25th. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

This study is currently recruiting participants.
Verified July 2016 by Edwin K. Silverman, Brigham and Women's Hospital
Sponsor:
ClinicalTrials.gov Identifier:
NCT01177618
First Posted: August 9, 2010
Last Update Posted: July 19, 2016
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.
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Edwin K. Silverman, Brigham and Women's Hospital
  Purpose
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
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)
Groups/Cohorts
Probands
Severe, early-onset COPD subjects that bring the family into the study
Relatives
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.

  Eligibility

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.


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
Criteria

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
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 ClinicalTrials.gov identifier (NCT number): NCT01177618


Contacts
Contact: Edwin K. Silverman, M.D., Ph.D. 617-525-2128 ed.silverman@channing.harvard.edu

Locations
United States, Massachusetts
Brigham and Women's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Cherie Maguire    617-525-2075    rechm@channing.harvard.edu   
Contact: Sandra Melanson    617-525-2128    redra@channing.harvard.edu   
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)
Investigators
Principal Investigator: Edwin K. Silverman, M.D., Ph.D. Brigham and Women's Hospital
  More Information

Publications:
Cho MH, Ciulla DM, Klanderman BJ, Hersh CP, Litonjua AA, Sparrow D, Raby BA, Silverman EK. Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol. 2009 Jun;40(6):751-5. doi: 10.1165/rcmb.2008-0340OC. Epub 2008 Nov 21.
Hersh CP, DeMeo DL, Al-Ansari E, Carey VJ, Reilly JJ, Ginns LC, Silverman EK. Predictors of survival in severe, early onset COPD. Chest. 2004 Nov;126(5):1443-51.
DeMeo DL, Reilly JJ, Ginns LC, Sylvia JS, Silverman EK. Concordance of genotypes in pre- and post-lung transplantation DNA samples. Am J Respir Cell Mol Biol. 2005 Oct;33(4):402-5. Epub 2005 Jun 30.
DeMeo DL, Carey VJ, Chapman HA, Reilly JJ, Ginns LC, Speizer FE, Weiss ST, Silverman EK. Familial aggregation of FEF(25-75) and FEF(25-75)/FVC in families with severe, early onset COPD. Thorax. 2004 May;59(5):396-400.
Silverman EK, Palmer LJ, Mosley JD, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, Province MA, Rao DC, Reilly JJ, Ginns LC, Speizer FE, Weiss ST. Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. Am J Hum Genet. 2002 May;70(5):1229-39. Epub 2002 Mar 25.
Silverman EK, Weiss ST, Drazen JM, Chapman HA, Carey V, Campbell EJ, Denish P, Silverman RA, Celedon JC, Reilly JJ, Ginns LC, Speizer FE. Gender-related differences in severe, early-onset chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2000 Dec;162(6):2152-8.
Silverman EK, Chapman HA, Drazen JM, Weiss ST, Rosner B, Campbell EJ, O'DONNELL WJ, Reilly JJ, Ginns L, Mentzer S, Wain J, Speizer FE. Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis. Am J Respir Crit Care Med. 1998 Jun;157(6 Pt 1):1770-8.

Responsible Party: Edwin K. Silverman, Professor of Medicine, Brigham and Women's Hospital
ClinicalTrials.gov 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 )
First Submitted: August 6, 2010
First Posted: August 9, 2010
Last Update Posted: July 19, 2016
Last Verified: July 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
COPD
Emphysema
Chronic Bronchitis
Genetics
Association Studies

Additional relevant MeSH terms:
Lung Diseases
Lung Diseases, Obstructive
Pulmonary Disease, Chronic Obstructive
Respiratory Tract Diseases


To Top