Hidden gene behind breathlessness? study tests link to rare lung condition

NCT ID NCT07152834

Recruiting now Diagnosis Sponsor: Muğla Sıtkı Koçman University Source: ClinicalTrials.gov ↗

First seen Jun 26, 2026 · Last updated Jun 26, 2026

Summary

This study is looking at whether a genetic condition called Alpha-1 antitrypsin deficiency (AATD) is more common in people who have shortness of breath and signs of airway blockage on breathing tests. Researchers will measure AAT levels and check for related gene mutations in 734 adults from a clinic in Turkey. The goal is to improve detection of this underdiagnosed condition, which can lead to lung damage, especially in smokers.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this could lead to better detection of Alpha-1 antitrypsin deficiency in people with breathing problems, enabling earlier diagnosis and treatment.
What could go wrong: This is an observational study, not a treatment trial. It may not find a strong link, and results may not apply to all populations.

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Conditions

The condition(s) this trial relates to.

Airway Obstruction alpha 1-antitrypsin deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ALPHA-1 ANTITRYPSIN DEFICIENCY (AATD)

Contacts and locations

Locations

Muğla Training and Research Hospital
RECRUITING

Muğla, Menteşe, 48000, Turkey (Türkiye)

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