Evaluation of the Relationship Between Dyspnoea and Functional Airway Obstruction in Alpha-1 Antitrypsin Deficiency: A Prospective, Case-Control, Analytical Study

Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: t
View:

• 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.

Locations
Other Locations
Turkey
Muğla Training and Research Hospital
RECRUITING
Muğla
Contact Information
Primary
Ozlem Sengoren Dikis, Associate Professor
ozlemsengoren@mu.edu.tr
+905073849700
Backup
sabri serhan olcay, Assistant Prof.
serhanolcay@mu.edu.tr
+905057578329
Time Frame
Start Date: 2025-08-06
Estimated Completion Date: 2026-01-05
Participants
Target number of participants: 734
Treatments
PRISm
Patients with a post-bronchodilator FEV1/FVC ratio ≥ 0.70, FEV1 \< 80
Normal PFT
Patients with a post-bronchodilator FEV1/FVC ratio ≥ 0.70, FEV1 ≥ 80
Sponsors
Leads: Muğla Sıtkı Koçman University
Collaborators: PROGENIKA BIOPHARMA, A GRIFOLS Company

This content was sourced from clinicaltrials.gov