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

NCT01177618 | Recruiting

• 2 other identifiers: 1437U01HL089856
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Chronic Obstructive Pulmonary Disease

Keywords

Chronic Obstructive Pulmonary Disease; COPD; Emphysema; Chronic Bronchitis; Genetics; Association Studies

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Severe, early-onset COPD subjects and their relatives

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Brigham and Women's Hospital: lead
• National Heart, Lung, and Blood Institute (NHLBI): collaborator

Study Sites (1)

Brigham and Women's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Related 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.2008-0340OC. Epub 2008 Nov 21.

  PMID: 19029017 RESULT

• 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.

  PMID: 15539711 RESULT

• 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.

  PMID: 15994430 RESULT

• 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.

  PMID: 15115866 RESULT

• 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.

  PMID: 11914989 RESULT

• 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.

  PMID: 11112130 RESULT

• 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.

  PMID: 9620904 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

DNA, Serum, Plasma, Buccal Brushings, and Urine

MeSH Terms

Conditions

Pulmonary Disease, Chronic Obstructive; Emphysema; Bronchitis, Chronic

Condition Hierarchy (Ancestors)

Lung Diseases, Obstructive; Lung Diseases; Respiratory Tract Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Bronchitis; Respiratory Tract Infections; Infections; Bronchial Diseases

Study Officials

• Edwin K. Silverman, M.D., Ph.D.

  Brigham and Women's Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

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

CONTACT

617-525-2128; ed.silverman@channing.harvard.edu

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Medicine

Study Record Dates

• First Submitted: August 6, 2010
• First Posted: August 9, 2010
• Study Start: July 1, 1994
• Primary Completion (Estimated): July 1, 2027
• Study Completion (Estimated): July 1, 2027
• Last Updated: October 24, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will share
• Shared Documents: ANALYTIC CODE
• Time Frame: dbGaP submission is being performed by TOPMed for eligible subjects. Although TOPMed controls this data release, it typically occurs within six months of data generation.
• Access Criteria: Approval through dbGaP

Locations

US (1)