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

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ClinicalTrials.gov Identifier: NCT01177618
Recruitment Status : Recruiting
First Posted : August 9, 2010
Last Update Posted : July 23, 2021
Sponsor:
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Edwin K. Silverman, Brigham and Women's Hospital

Tracking Information
First Submitted Date August 6, 2010
First Posted Date August 9, 2010
Last Update Posted Date July 23, 2021
Study Start Date July 1994
Estimated Primary Completion Date July 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 11, 2016)
No Primary Outcome [ Time Frame: Single Visit for approximately two hours to collect study data and samples ]
Since this is an observational study, there are no primary outcomes
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Boston Early-Onset Chronic Obstructive Pulmonary Disease (COPD) Study
Official Title Genetic Epidemiology of Severe, Early-Onset Chronic Obstructive Pulmonary Disease
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.

Study Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
DNA, Serum, Plasma, Buccal Brushings, and Urine
Sampling Method Non-Probability Sample
Study Population Severe, early-onset COPD subjects and their relatives
Condition Chronic Obstructive Pulmonary Disease
Intervention Not Provided
Study Groups/Cohorts
  • 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.
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: August 6, 2010)
2000
Original Estimated Enrollment Same as current
Estimated Study Completion Date July 2022
Estimated Primary Completion Date July 2022   (Final data collection date for primary outcome measure)
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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Edwin K. Silverman, M.D., Ph.D. 617-525-2128 ed.silverman@channing.harvard.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01177618
Other Study ID Numbers 1437
U01HL089856 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: Yes
Plan Description: For subjects approved for data sharing by our IRB, we will release genome sequencing data through dbGaP.
Supporting Materials: 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
Responsible Party Edwin K. Silverman, Brigham and Women's Hospital
Study Sponsor Brigham and Women's Hospital
Collaborators National Heart, Lung, and Blood Institute (NHLBI)
Investigators
Principal Investigator: Edwin K. Silverman, M.D., Ph.D. Brigham and Women's Hospital
PRS Account Brigham and Women's Hospital
Verification Date July 2021