Clinical trial NCT01177618: Boston Early-Onset Chronic Obstructive Pulmonary Disease (COPD) Study
Official title: Genetic Epidemiology of Severe, Early-Onset Chronic Obstructive Pulmonary Disease
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Chronic Obstructive Pulmonary Disease
Keywords: Chronic Obstructive Pulmonary Disease
COPD
Emphysema
Chronic Bronchitis
Genetics
Association Studies
Lead sponsor: Brigham and Women's Hospital
Sponsor class: OTHER
Collaborators: name: National Heart, Lung, and Blood Institute (NHLBI)
First posted: 2010-08-09
Enrollment: 2000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Severe, early-onset COPD subjects and their relatives

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.

Eligibility 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

Primary outcomes:
measure: No Primary Outcome
timeFrame: Single Visit for approximately two hours to collect study data and samples
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Brigham and Women's Hospital
state: Massachusetts
Study officials:
affiliation: Brigham and Women's Hospital
name: Edwin K. Silverman, M.D., Ph.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
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.
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.
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.
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 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.
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. 2000 Dec;162(6):2152-8. doi: 10.1164/ajrccm.162.6.2003112.
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 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.