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Evaluating Genetic Factors That May Contribute to Elastin Function and the Development of Chronic Obstructive Pulmonary Disease

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified September 2012 by Washington University School of Medicine.
Recruitment status was:  Active, not recruiting
Information provided by (Responsible Party):
Washington University School of Medicine Identifier:
First received: July 29, 2008
Last updated: September 14, 2012
Last verified: September 2012
Chronic obstructive pulmonary disease (COPD) is a lung disease that is primarily caused by cigarette smoking. The breakdown of elastin, a protein found in the lungs, can cause lung damage and may contribute to the development of COPD. Some people may be more prone to elastin damage and in turn to developing COPD than others. This study will examine whether genetic factors are responsible for altering elastin function and increasing the risk of developing COPD.

Emphysema Pulmonary Disease, Chronic Obstructive

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Specialized Center of Clinically Oriented Research: Alveolar and Airway Mechanisms for COPD: Genetic Determinants: Elastin Quality and Quantity (Project 2)

Resource links provided by NLM:

Further study details as provided by Washington University School of Medicine:

Biospecimen Retention:   Samples With DNA
Plasma, serum, isolated RNA and DNA, lung tissue (obtained from other substudies)

Enrollment: 255
Study Start Date: November 2007
Estimated Study Completion Date: September 2012
Estimated Primary Completion Date: September 2012 (Final data collection date for primary outcome measure)
Detailed Description:

COPD is a disease in which the lung airways are damaged and partly obstructed, making it difficult to breathe. There is no cure for this disease, and it is the fourth leading cause of death in the United States. Symptoms include coughing, excess mucus production, shortness of breath, wheezing, and chest tightness. The most common risk factor for developing COPD is cigarette smoking; however, only 15% to 20% of smokers are diagnosed with COPD in their lifetimes, suggesting that some smokers are more prone to developing COPD than others. Elastin, a protein found in the tissues surrounding the lung airways and in the alveolar walls of the lung, is essential for healthy lung function. As elastin breaks down, lung damage can occur, potentially leading to COPD. It is thought that some people may be genetically predisposed to elastin damage by cigarette smoke, thus accounting for the select group of smokers affected by COPD. This study will examine the ways in which elastin defects contribute to the development of COPD. Researchers will examine whether genetic variations play a role in altering elastin function and in influencing health outcomes in people with COPD.

This study will enroll people with COPD that was caused by emphysema. Participants will complete one study visit that will include a medical record and history review and blood collection (or saliva collection, if blood draw is unsuccessful). A portion of blood will be stored for future genetic research. Participants will also complete questionnaires to collect information on activities, health, and quality of life. Study researchers will contact participants at the end of the study to collect follow-up medical information.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
This study will enroll people who undergo evaluation or follow-up at Barnes-Jewish Hospital for lung volume reduction surgery (LVRS). Researchers will also enroll eligible COPD patients from other Washington University Medical Center pulmonary clinics.

Inclusion Criteria:

  • Age equal to or greater than 18 years
  • Ability to read and write in English
  • Able to participate in the informed consent process
  • Acceptable pulmonary function tests (PFTs) done at Barnes-Jewish Hospital within 1 month of study enrollment
  • Relatively stable clinical status (not experiencing COPD exacerbation in the previous 6 weeks)
  • Global Initiative for Chronic Obstructive Lung Disease (GOLD) class III or IV COPD (FEV1/FVC less than 70% and FEV1 less than 50% of predicted value)

Exclusion Criteria:

  • Pregnant
  • Prisoner
  • Vulnerable populations
  • Pi Z phenotype (i.e., alpha-1 antitrypsin deficiency)
  • Significant lung disease, other than COPD / emphysema / chronic bronchitis (e.g., interstitial lung disease, asthma or other predominant airway disease, cystic fibrosis, active tuberculosis)
  • Known active hepatitis B, hepatitis C, or HIV/AIDS (found in medical record review; not prospectively evaluated)
  • Coexisting active chronic inflammatory or collagen vascular disease, immunodeficiency of any kind, non-cutaneous malignancy (melanoma is an exclusion), or previous organ transplant
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00725309

United States, Missouri
Washington University School of Medicine
St. Louis, Missouri, United States, 63110
Sponsors and Collaborators
Washington University School of Medicine
Principal Investigator: Robert P. Mecham, PhD Washington University School of Medicine
  More Information

Responsible Party: Washington University School of Medicine Identifier: NCT00725309     History of Changes
Other Study ID Numbers: 576
P50HL084922-01 ( U.S. NIH Grant/Contract )
Study First Received: July 29, 2008
Last Updated: September 14, 2012

Keywords provided by Washington University School of Medicine:
Chronic Obstructive Pulmonary Disease

Additional relevant MeSH terms:
Lung Diseases
Lung Diseases, Obstructive
Pulmonary Disease, Chronic Obstructive
Chronic Disease
Respiratory Tract Diseases
Disease Attributes
Pathologic Processes processed this record on September 21, 2017