Prevalence of Alpha-1 Antitrypsin Deficiency in Chronic Obstructive Pulmonary Disease (COPD) (PFT)

Targeted Detection of Alpha-1 Antitrypsin Deficiency in Patients Referred for Pulmonary Function Testing

Alpha-1 antitrypsin deficiency (AATD) is considered a rare genetic cause of chronic obstructive pulmonary disease (COPD) and liver disease. Recent data has suggested that AATD is not as rare as originally thought and undetected AATD may account for COPD in some patients. This study was designed to evaluate the frequency of undetected AATD in a population reporting to academic pulmonary function testing facilities who meet criteria for the diagnosis of COPD. All individuals meeting GOLD criteria for COPD will be consented and offered free testing for AATD. The results will help identify the percent of those with COPD who have undetected AATD.

Study Overview

• Status: Completed
• Conditions: Chronic Obstructive Pulmonary Disease; Alpha-1 Antitrypsin Deficiency

• Study Type: Observational
• Enrollment (Actual): 3457

Contacts and Locations

Study Locations

• Puerto Rico
  • Centro Medico Metropolitano, Puerto Rico, 09036
    • San Juan City Hospital
• United States
  • California
    • Los Angeles, California, United States, 90095
      • University of California Los Angeles
  • Colorado
    • Denver, Colorado, United States, 80206
      • National Jewish Medical and Research Center
  • Florida
    • Gainesville, Florida, United States, 32610
      • University of Florida (Gainesville)
    • Jacksonville, Florida, United States, 32209
      • University of Florida (Jacksonville)
    • Miami, Florida, United States, 33101
      • University of Miami
    • Miami, Florida, United States, 33125
      • Miami VA Medical Center
    • Weston, Florida, United States, 33332
      • Cleveland Clinic Florida
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Emory University
    • Atlanta, Georgia, United States, 30308
      • Emory Crawford Long Hospital
    • Decatur, Georgia, United States, 30033
      • Atlanta VA Medical Center
  • Illinois
    • Chicago, Illinois, United States, 60637
      • University of Chicago
  • Minnesota
    • Rochester, Minnesota, United States, 55905
      • Mayo Clinic Rochester
  • New York
    • New York, New York, United States, 10025
      • St. Luke's-Roosevelt Hospital Center
  • North Carolina
    • Chapel HIll, North Carolina, United States, 27599
      • University of North Carolina at Chapel Hill
  • Ohio
    • Cleveland, Ohio, United States, 44195
      • The Cleveland Clinic Foundation
  • Oregon
    • Portland, Oregon, United States, 97239
      • Oregon Health & Science University
  • South Carolina
    • Charleston, South Carolina, United States, 29425
      • Medical University of South Carolina
  • Texas
    • Tyler, Texas, United States, 75708
      • University of Texas Health Science Center at Tyler

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Individuals reporting for pulmonary function testing who meet criteria for the diagnosis of chronic obstructive pulmonary disease

Description

Inclusion Criteria:

• Male and female adults at least 18 years of age able to understand and consent to the procedures of this protocol.
• All races and ethnicities will be considered for this study.
• Post-bronchodilator values for pulmonary function tests on the day of enrollment with an FEV1 < 80% of predicted and FEV1/FVC < 70% (at least GOLD stage II).
• Subjects who have been tested for Alpha-1 in the past but do not know their genotype or phenotype may be included in this study.

Note: For the inclusion criteria the investigators will use the patient's GOLD status, based on percent predicted (FEV1 < 80% of predicted); however, after sending the absolute value of FEV1 to the Data Coordinating Center (DCC) the DCC will calculate the percent predicted using a standardized formula (NHANES III). For sites that do not use this predicted formula, the results obtained at the DCC may differ from those used for subject enrollment. (For example, a subject found to have an FEV1 of <80% at the study site could have an FEV1 > 80% when the DCC recalculates it). Enrollment will be based on the percent predicted at each study site. If necessary, the data from this small number of outliers will be analyzed separately.

Exclusion Criteria:

• Subjects in whom post-bronchodilator spirometry is not performed.
• Subjects whose ordering physician has specifically requested that his patients not be considered for enrollment.
• Patients who have been tested for Alpha-1 in the past and know their genotype or phenotype.

Study Plan

How is the study designed?

Collaborators and Investigators

• Sponsor: Alpha-1 Foundation
• Investigators: Principal Investigator: Robert A Sandhaus, M.D., Ph.D., National Jewish Health

Study record dates

Study Major Dates

• Study Start: January 1, 2008
• Primary Completion (Actual): January 1, 2010
• Study Completion (Actual): January 1, 2010

Study Registration Dates

• First Submitted: August 16, 2011
• First Submitted That Met QC Criteria: August 17, 2011
• First Posted (Estimate): August 18, 2011

Study Record Updates

• Last Update Posted (Estimate): January 19, 2012
• Last Update Submitted That Met QC Criteria: January 18, 2012
• Last Verified: September 1, 2011

More Information

Terms related to this study

• Keywords: Chronic obstructive pulmonary disease; Alpha-1 antitrypsin deficiency; Alpha-1 antitrypsin
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Respiratory Tract Diseases; Liver Diseases; Genetic Diseases, Inborn; Subcutaneous Emphysema; Emphysema; Lung Diseases; Lung Diseases, Obstructive; Pulmonary Disease, Chronic Obstructive; Alpha 1-Antitrypsin Deficiency
• Other Study ID Numbers: PFT-001