Screening for Alpha-1 Antitrypsin Deficiency in Patients With Airway Obstruction

Condition(s) studied

Investigational drug(s) / intervention(s)

Blood Sampling: 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.

Study summary

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.

Eligibility

Primary outcome measure(s)

• Prevalence of Alpha-1 Antitrypsin Deficiency (AATD) — Day 1
  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.

Trial sites (1)

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