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

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.

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