Testing for alpha-1 antitrypsin deficiency in people with airway obstruction
Evaluation of the Relationship Between Dyspnoea and Functional Airway Obstruction in Alpha-1 Antitrypsin Deficiency: A Prospective, Case-Control, Analytical Study
This project will test whether people with shortness of breath and airway obstruction on spirometry have a higher rate of alpha-1 antitrypsin deficiency by measuring blood AAT levels and common gene mutations.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 734 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Muğla Sıtkı Koçman University Academic / other |
| Locations | 1 site (Muğla, Menteşe) |
| Trial ID | NCT07152834 on ClinicalTrials.gov |
What this trial studies
This is a single-center, prospective cross-sectional screening of patients presenting to a pulmonary outpatient clinic with dyspnea who undergo routine spirometry. Consecutive eligible patients will give a small blood sample for serum AAT level measurement and genotyping for common AATD mutations, and results will be compared across the screened population. The study excludes patients with known COPD, asthma, bronchiectasis, certain inflammatory, liver, haematological or renal diseases, pregnant women, and oral contraceptive users. The goal is to find previously undiagnosed AATD cases so they can receive appropriate management and family testing.
Who should consider this trial
Good fit: Adults presenting with shortness of breath who are having spirometry that meets the study's airway obstruction criteria, can give a blood sample, and can communicate in Turkish are ideal candidates.
Not a fit: People with known COPD, asthma, bronchiectasis, certain systemic diseases, pregnant women, oral contraceptive users, or those unable to attend the Muğla clinic are unlikely to benefit from this screening.
Why it matters
Potential benefit: If successful, the screening could uncover undiagnosed AATD earlier, allowing for targeted management, family screening, and prevention efforts such as smoking cessation.
How similar studies have performed: Previous targeted screening efforts in high‑risk respiratory populations have successfully identified previously undiagnosed AATD, so this approach builds on established practice.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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. Exclusion Criteria: * Renal dysfunction; acute inflammation; rheumatological, haematological, or liver diseases; COPD; asthma; bronchiectasis; and a history of malignancy. * Pregnant women and users of oral contraceptives.
Where this trial is running
Muğla, Menteşe
- Muğla Training and Research Hospital — Muğla, Menteşe, Turkey (Türkiye) (Recruiting)
Study contacts
- Study coordinator: Ozlem Sengoren Dikis, Associate Professor
- Email: ozlemsengoren@mu.edu.tr
- Phone: +905073849700
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.