AATD-SAO
Evaluation of the Relationship Between Dyspnoea and Functional Airway Obstruction in Alpha-1 Antitrypsin Deficiency: A Prospective, Case-Control, Analytical Study
Sponsor study identifier
observational
734
1 country
1
Study Start
August 6, 2025
Actual (reported)Primary Completion
December 30, 2025
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
January 5, 2026
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Brief Summary: This study aims to find out if a genetic condition called Alpha-1 Antitrypsin Deficiency (AATD) is more common in people who have shortness of breath and signs of airway obstruction on their breathing tests. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs from damage. AATD is an inherited condition where the body does not make enough of this protein, which can lead to lung diseases like emphysema, especially in smokers. Investigators hypothesize that low AAT levels or related genetic mutations may be a contributing factor to airway obstruction in patients complaining of shortness of breath. To test this, investigators will recruit patients from our outpatient clinic who are being evaluated for shortness of breath and are having a standard breathing test (spirometry). Investigators will measure their AAT levels and test for the most common genetic mutations that cause AATD using a small blood sample. Investigators will then compare the AAT levels and genetic results between different groups of patients, such as smokers and non-smokers with and without airway obstruction. Investigators will also see if the severity of a patient's shortness of breath is related to their AAT levels. The goal is to improve the detection of AATD in this patient population, which could lead to better diagnoses and specific treatments for those who have this condition.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
January 5, 2026
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
August 6, 2025
Actual (reported)August 26, 2025
Actual (reported)September 3, 2025
Actual (reported)December 30, 2025
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
January 5, 2026
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Prevalence of Alpha-1 Antitrypsin Deficiency (AATD)
The prevalence of Alpha-1 Antitrypsin Deficiency (AATD) is defined as the proportion of participants in each group who test positive for the condition. AATD is diagnosed by either: Genetic Analysis: Identification of a pathogenic SERPINA1 mutation (e.g., PIZ or PIS allele) via PCR-based genotyping of a capillary blood sample. Serum Level Analysis: A serum AAT concentration below 0.9 g/L, measured using an immunoturbidimetric assay on a residual serum sample from routine blood work. The difference in prevalence rates between the case and control groups will be statistically compared.
Day 1
Correlation between AATD and smoking status.
Day 1
Correlation between dyspnea severity and AAT level.
Day 1
Patients with a post-bronchodilator FEV1/FVC ratio ≥ 0.70, FEV1 \< 80
Patients with a post-bronchodilator FEV1/FVC ratio ≥ 0.70, FEV1 ≥ 80
For AAT Level: Residual serum from routine blood samples drawn for standard clinical care will be aliquoted into polypropylene cryotubes. For Genetic Testing: A separate capillary blood sample will be obtained via finger prick using a sterile lancet and collected on a designated filter paper.
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The study population will consist of consecutive adult patients presenting with a primary complaint of dyspnoea (shortness of breath) at the Chest Diseases Outpatient Clinic of Muğla Training and Research Hospital in Turkey. These patients will be referred for routine diagnostic pulmonary function testing (spirometry) as part of their standard clinical care.
Muğla Training and Research Hospital
Muğla, Menteşe, 48000, Turkey (Türkiye)
The following biological samples will be retained for the duration of the study: Residual serum from routine clinical blood samples, aliquoted and stored in polypropylene cryotubes at -80°C for Alpha-1 Antitrypsin (AAT) level quantification. Capillary whole blood collected via finger prick, stored on filter paper or in micro-containers, for DNA extraction and SERPINA1 genotyping.
First Submitted
August 26, 2025
First Posted
September 3, 2025
Study Start
August 6, 2025
Actual (reported)Primary Completion
December 30, 2025
Estimated (date passed)Modeling Blood Management and Hemolytic Risk in Pediatric Heart Surgery
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This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
January 5, 2026
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Last Updated
September 10, 2025
Record last verified: 2025-09
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Source: ClinicalTrials.gov.
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