Fine Mapping of COPD Susceptibility Genes

A clinical trial is currently underway to determine if genetic factors, other than Alpha-1 Antitrypsin Deficiency influence the development of COPD. Alpha-1 Antitrypsin is an important blood protein that helps to protect the lungs. All cells contain a group of substances, including DNA, chromosomes, and genes that shape identity and can be passed on to other cells. For example, these substances determine the pattern of your fingerprints and the color of your eyes. The study of this is called genetics.

To participate in this study, you will be asked to complete a standard questionnaire that will help assess your lung history and symptoms as well as the following: workplace and smoking histories, home environment, and family history. You will perform a pulmonary function (breathing) test to help assess your lungs. You will receive a medication called Albuterol during this testing procedure. Albuterol is a medication approved by the Food and Drug Administration (FDA) and is used to treat asthma and chronic obstructive pulmonary disease (COPD). A cheek swab will be collected to confirm DNA testing by swabbing the inner part of your mouth with a cotton applicator. If you are a woman who is able to have children, you will be asked for a urine test to screen for pregnancy. Approximately 2 tablespoons of blood will be drawn for testing for Alpha-1 Antitrypsin deficiency and for genetic information.

Inclusion Criteria

  • No other significant lung disease
  • No lung volume reduction sugery (unless your breathing tests prior to surgery are available)
  • No severe AAT deficiency (PIZZ, Znull, Null-Null, or SZ)
For further information please contact:
Allyson Fox, RN MSN
Coordinator, Clinical Programs
Alpha-1 Antitrypsin Deficiency Research Program
University of Florida
PO Box 100225
Gainesville, FL 32610
Tel: (352) 846-1347
Toll-Free: (800) 559-5706
Fax: (352) 392-8403

 

 
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