Alpha-1 Antitrypsin Genetic Modifiers Study
In 2001, a group of physician scientists from medical centers around the United States developed a research study to investigate the reasons why some people with Alpha-1 Antitrypsin Deficiency develop chronic obstructive pulmonary disease (COPD), while other people with Alpha-1 Antitrypsin Deficiency never develop significant breathing problems.
Chronic obstructive pulmonary disease includes emphysema and chronic bronchitis. Many studies have shown that for most people with COPD, smoking has been a major contributor to their disease. However, many smokers do not develop COPD, and some people with COPD have not smoked at all. Some people, who can develop COPD with or without smoking, have an inherited protein deficiency in their blood called Alpha-1 Antitrypsin Deficiency (AATD). AATD is a proven inherited risk factor for COPD, but only a small percentage of all COPD patients have this protein deficiency.
We are interested to learn if there are any genetic factors that modify the expression of lung disease in individuals who inherit severe AATD. If we are able to identify the genetic factors that modify the expression of lung disease in AATD individuals, it may improve our understanding of COPD. In order to find and identify these factors, we are performing measurments of pulmonary function, assessing respiratory symptoms and environmental exposures with a series of questionnaires, and obtaining a blood sample to extract DNA.
We are contacting individuals with severe AATD to ask them to participate in our study. Participation is voluntary and completely confidential. A subject's participation in the study will have no influence on their regular treatment or medical care in any way.
In order to determine if there are genetic factors that modify the expression of lung disease, we will ask the AATD subjects that participate in our study if we can contact their immediate relatives who also have AATD as well as any available parents. These parents and AATD relatives will also be asked to participate in our study. Our goal is to study as many subjects with AATD as possible, and to include all of their available relatives who are willing to participate.
All participants in the study are asked to perform a series of tests, which are completed during an approximately 2-3 hour visit with the research staff.
These tests include
- Questionnaires: Participants will be asked questions from a series of questionnaires related to their lung and general health.
- Breathing Tests: Participants will perform tests of pulmonary function; these tests will be repeated after treatment with a medication which may open bronchial tubes in participants with a tendency towards asthma.
- Blood Tests: A small amount of blood will be drawn to extract DNA in order to identify genetic factors that modify the expression of lung disease related to AATD. A portion of the collected blood will also be used to test for AATD.
If you are interested in obtaining more information about this research study, plese contact a member of the research department listed below.
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Allyson Fox, (352) 846-1347 Mark Brantly, M.D. University of Florida Pulmonary and Critical Care Medicine Alpha-1 Research Program Box 100225 Gainesville, FL 32610-0225 |
