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

NCT ID NCT07152834

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

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 734 people

The number the study aims to enrol. It can still change while the study runs.

Started

Aug 2025

Expected to finish

Jan 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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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)

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Muğla Training and Research Hospital

    RECRUITING

    Muğla, Menteşe, 48000, Turkey (Türkiye)

More trials for these conditions

Other studies related to the condition(s) this trial covers.