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

Chronic Obstructive Pulmonary Disease Clinical Trial

Official title:

Genetic Epidemiology of Severe, Early-Onset Chronic Obstructive Pulmonary Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01177618
• Other study ID #: 1437
• Secondary ID: U01HL089856
• Status: Recruiting
• Start date: July 1994
• Est. completion date: July 2027

Study information

• Verified date: February 2023
• Source: Brigham and Women's Hospital
• Contact: Edwin K. Silverman, M.D., Ph.D.
• Phone: 617-525-2128
• Email: ed.silverman[@]channing.harvard.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Other known NCT identifiers

• NCT00106444

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 2000
• Est. completion date: July 2027
• Est. primary completion date: July 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Chronic Obstructive Pulmonary Disease
• Lung Diseases
• Lung Diseases, Obstructive
• Pulmonary Disease, Chronic Obstructive

Locations

Country	Name	City	State
United States	Brigham and Women's Hospital	Boston	Massachusetts

Sponsors (2)

Lead Sponsor	Collaborator
Brigham and Women's Hospital	National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

United States, 

References & Publications (7)

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 — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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 obstruc — View Citation

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 seve — View Citation

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. 2 — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	No Primary Outcome	Since this is an observational study, there are no primary outcomes	Single Visit for approximately two hours to collect study data and samples