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

NCT07152834 | Recruiting

• 1 other identifier: Alpha1
• Study Type: observational
• Target: 734
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Alpha 1-antitrypsin Deficiency (AATD)

Keywords

Alpha 1-Antitrypsin Deficiency; Airway Obstruction; PRISm

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (1)

• Correlation between AATD and smoking status.

  Day 1

Other Outcomes (1)

• Correlation between dyspnea severity and AAT level.

  Day 1

Study Arms (2)

PRISm

Patients with a post-bronchodilator FEV1/FVC ratio ≥ 0.70, FEV1 \< 80

Diagnostic Test: Blood Sampling

Normal PFT

Patients with a post-bronchodilator FEV1/FVC ratio ≥ 0.70, FEV1 ≥ 80

Diagnostic Test: Blood Sampling

Interventions

Blood Sampling DIAGNOSTIC_TEST

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.

Normal PFT; PRISm

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• Achieve a post-bronchodilator FEV1/FVC ratio of 70 or above in the respiratory function test.
• Be able to speak and understand Turkish.
• Have the mental and cognitive capacity to understand the questions asked.

You may not qualify if:

• Renal dysfunction; acute inflammation; rheumatological, haematological, or liver diseases; COPD; asthma; bronchiectasis; and a history of malignancy.
• Pregnant women and users of oral contraceptives.

Sponsors & Collaborators

• Muğla Sıtkı Koçman University: lead
• PROGENIKA BIOPHARMA, A GRIFOLS Company: collaborator

Study Sites (1)

Muğla Training and Research Hospital

Muğla, Menteşe, 48000, Turkey (Türkiye)

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

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.

MeSH Terms

Conditions

alpha 1-Antitrypsin Deficiency; Airway Obstruction

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Subcutaneous Emphysema; Emphysema; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Respiratory Insufficiency; Respiration Disorders

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Ozlem Sengoren Dikis, Associate Professor

CONTACT

+905073849700; ozlemsengoren@mu.edu.tr

sabri serhan olcay, Assistant Prof.

CONTACT

+905057578329; serhanolcay@mu.edu.tr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: August 26, 2025
• First Posted: September 3, 2025
• Study Start: August 6, 2025
• Primary Completion: December 30, 2025
• Study Completion: January 5, 2026
• Last Updated: September 10, 2025

Record last verified: 2025-09

Locations

TU (1)