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

NCT ID: NCT01177618

Last Updated: 2025-10-24

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 2000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 1994-07-31
• Study Completion Date: 2027-07-31

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.

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.

Conditions

Chronic Obstructive Pulmonary Disease

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Probands

Severe, early-onset COPD subjects that bring the family into the study

No interventions assigned to this group

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.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• 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

• 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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role: collaborator

Brigham and Women's Hospital

OTHER

Sponsor Role: lead

Responsible Party

Edwin K. Silverman

Professor of Medicine

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Edwin K. Silverman, M.D., Ph.D.

Role: PRINCIPAL_INVESTIGATOR

Brigham and Women's Hospital

Locations

Brigham and Women's Hospital

Boston, Massachusetts, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Edwin K. Silverman, M.D., Ph.D.

Role: CONTACT

ed.silverman@channing.harvard.edu

617-525-2128

Facility Contacts

Edwin Silverman

Role: primary

ed.silverman@channing.harvard.edu

617-525-0856

Violet Richardson

Role: backup

advri@channing.harvard.edu

617-525-2128

References

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.

Reference Type: RESULT

PMID: 19029017 (View on PubMed)

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. doi: 10.1378/chest.126.5.1443.

Reference Type: RESULT

PMID: 15539711 (View on PubMed)

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. doi: 10.1165/rcmb.2005-0142OC. Epub 2005 Jun 30.

Reference Type: RESULT

PMID: 15994430 (View on PubMed)

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. doi: 10.1136/thx.2003.012856.

Reference Type: RESULT

PMID: 15115866 (View on PubMed)

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. doi: 10.1086/340316. Epub 2002 Mar 25.

Reference Type: RESULT

PMID: 11914989 (View on PubMed)

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. doi: 10.1164/ajrccm.162.6.2003112.

Reference Type: RESULT

PMID: 11112130 (View on PubMed)

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. doi: 10.1164/ajrccm.157.6.9706014.

Reference Type: RESULT

PMID: 9620904 (View on PubMed)

Other Identifiers

U01HL089856

Identifier Type: NIH

Identifier Source: secondary_id

View Link

1437

Identifier Type: -

Identifier Source: org_study_id

NCT00106444

Identifier Type: -

Identifier Source: nct_alias