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

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.

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Key information

Conditions

Alpha-1 Antitrypsin Deficiency Chronic Disease Chronic Obstructive Pulmonary Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Disease Attributes Emphysema Genetic Diseases, Inborn Liver Diseases Lung Diseases Lung Diseases, Obstructive Pathologic Processes Pathological Conditions, Signs and Symptoms Pulmonary Disease, Chronic Obstructive Respiratory Tract Diseases Subcutaneous Emphysema alpha 1-Antitrypsin Deficiency

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

San Juan City Hospital, Centro Medico Metropolitano, San Juan, Puerto Rico

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Sponsors and collaborators

Lead sponsor

Alpha-1 Foundation

Other

Registry information

Official study title

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

Acronym: PFT

Important dates

Study start: 2008
Primary completion: 2010
Study completion: 2010
First posted: Aug 18, 2011
Registry last updated: Jan 19, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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