Clinical trial NCT01419158: Prevalence of Alpha-1 Antitrypsin Deficiency in Chronic Obstructive Pulmonary Disease (COPD)
Official title: Targeted Detection of Alpha-1 Antitrypsin Deficiency in Patients Referred for Pulmonary Function Testing
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Alpha-1 Antitrypsin Deficiency
Chronic Obstructive Pulmonary Disease
Keywords: Alpha-1 antitrypsin
Alpha-1 antitrypsin deficiency
Chronic obstructive pulmonary disease
Lead sponsor: Alpha-1 Foundation
Sponsor class: OTHER
First posted: 2011-08-18
Enrollment: 3457
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals reporting for pulmonary function testing who meet criteria for the diagnosis of chronic obstructive pulmonary disease

Brief summary: 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.


Eligibility criteria: 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.

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: University of California Los Angeles
state: California
city: Denver
country: United States
facility: National Jewish Medical and Research Center
state: Colorado
city: Gainesville
country: United States
facility: University of Florida (Gainesville)
state: Florida
city: Jacksonville
country: United States
facility: University of Florida (Jacksonville)
state: Florida
city: Miami
country: United States
facility: University of Miami
state: Florida
city: Miami
country: United States
facility: Miami VA Medical Center
state: Florida
city: Weston
country: United States
facility: Cleveland Clinic Florida
state: Florida
city: Atlanta
country: United States
facility: Emory Crawford Long Hospital
state: Georgia
city: Atlanta
country: United States
facility: Emory University
state: Georgia
city: Decatur
country: United States
facility: Atlanta VA Medical Center
state: Georgia
city: Chicago
country: United States
facility: University of Chicago
state: Illinois
city: Rochester
country: United States
facility: Mayo Clinic Rochester
state: Minnesota
city: New York
country: United States
facility: St. Luke's-Roosevelt Hospital Center
state: New York
city: Chapel HIll
country: United States
facility: University of North Carolina at Chapel Hill
state: North Carolina
city: Cleveland
country: United States
facility: The Cleveland Clinic Foundation
state: Ohio
city: Portland
country: United States
facility: Oregon Health & Science University
state: Oregon
city: Charleston
country: United States
facility: Medical University of South Carolina
state: South Carolina
city: Tyler
country: United States
facility: University of Texas Health Science Center at Tyler
state: Texas
city: Centro Medico Metropolitano
country: Puerto Rico
facility: San Juan City Hospital
Study officials:
affiliation: National Jewish Health
name: Robert A Sandhaus, M.D., Ph.D.
role: PRINCIPAL_INVESTIGATOR
References: