Alpha-1 Foundation, AARC Cooperate on Study to Test 5,000 COPD Patients for Alpha-1
December 6, 2007
DENVER, CO – Some 5,000 COPD patients will be tested to determine the prevalence of Alpha-1 Antitrypsin Deficiency (Alpha-1) in a study marking a major cooperative effort between the Alpha-1 Foundation and the American Association for Respiratory Care (AARC).
The principal investigator for the study is Robert A. Sandhaus, MD, PhD, of the Division of Pulmonary Medicine, National Jewish Medical and Research Center in Denver. Sandhaus is also the Clinical Director of the Alpha-1 Foundation.
According to Sandhaus, “If the current literature is correct, the study should identify about 50 to 100 individuals who are unaware they have COPD due to Alpha-1. In addition, the study should identify about 300 people who are carrying a single abnormal Alpha-1 gene and all will be counseled about the potential risk to their children and family members.”
Sandhaus points to an intriguing possibility. “If this study confirms what much smaller studies have suggested about Alphas hidden in the COPD population, there could be as many as 400,000 individuals in the US who have lung disease due to Alpha-1 and don’t know it.”
More than 12 million people have been diagnosed with COPD (Chronic Obstructive Pulmonary Disease), an umbrella term that includes emphysema and chronic bronchitis. COPD is the 4th leading cause of death in the United States, and is expected to be the third leading killer by 2020. Alpha-1, sometimes called “genetic COPD,” is the most common known genetic risk factor for emphysema.
Sandhaus believes the study will demonstrate the effectiveness of using respiratory therapists to perform significant pulmonary clinical research.
“Respiratory therapists will have a critical role as more genetic factors (in lung, airway and sleep disorders) are identified,” said Alpha-1 Foundation President and CEO John W. Walsh. “The expanding role of the RT in supporting the physician will accelerate early detection and access to appropriate care.”
Thomas Kallstrom, AARC Chief Operating Officer, is the study coordinator for the AARC. "The positioning of respiratory therapists in this process is a natural relationship,” Kallstrom said. “We’re proud to be part of this monumental study.”
The Alpha-1 Foundation and the AARC cooperated to propose, design and run the study, which will evaluate:
n The prevalence of undetected Alpha-1 Antitrypsin Deficiency (Alpha-1) in patients with Chronic Obstructive Pulmonary Disease (COPD) referred for pulmonary function testing;
n What parameters of lung function are likely to predict the presence of Alpha-1;
n The age distribution of positive testing for Alpha-1, and which lung function parameters are associated with age and Alpha-1 diagnosis.
The study will enroll 5,000 people at 15 academic sites around the United States. To be eligible, a patient must have been referred for pulmonary function testing at the site. When the pulmonary function testing is complete, if the patient meets COPD criteria (as defined by GOLD, the Global Initiative for Chronic Obstructive Lung Disease) the patient will be offered enrollment in the study.
Those who decide to participate will be given a finger-stick test for Alpha-1 and will complete a brief questionnaire. The study requires only about 30 minutes of the subject’s time.
Participants will receive the results of their testing. If they are positive for Alpha-1, they will receive educational information about the condition and will be encouraged to call a toll-free number to speak with the Alpha-1 genetic counselor at the Medical University of South Carolina.
To evaluate the relationship between age and Alpha-1 diagnosis, the study will include equal numbers (1,667 per age group) of three age groups: 18-50; 51-65; and greater than 65 years old.
The epidemiology and AAT genotyping for the study will be done at the University of Florida Alpha-1 Genetics Laboratory run by Mark L. Brantly, MD. Data coordination and statistical analysis will be done by James Murphy, PhD, at National Jewish.
Jorge Zamudio, MD, is the Alpha-1 Foundation coordinator.
The study is supported in part by an unrestricted charitable contribution from Talecris Biotherapeutics.