Screening for Alpha-1 Antitrypsin Deficiency in Patients With Airway Obstruction
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorMuğla Sıtkı Koçman University
About this trial
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 criteria
This trial accepts healthy volunteersQualifiers
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.
Disqualifiers
Renal dysfunction; acute inflammation; rheumatological, haematological, or liver diseases; COPD; asthma; bronchiectasis; and a history of malignancy.
Pregnant women and users of oral contraceptives.
Trial 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.
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
Blood Sampling
Diagnostic testFor 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.
Treatment groups
734 Participants
are divided into 2 treatment groupsGroup A: PRISm1 intervention
Group B: Normal PFT1 intervention
Trial outcomes
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.
Time frame
Day 1Secondary outcomes
1
Correlation between AATD and smoking status.
The correlation between AATD and smoking habits will be analyzed by comparing the % of patients with AATD (as defined above) across different smoking status categories (never-smoker, former smoker, current smoker) within the study groups. Smoking history is quantified by patient-reported pack-years.
Time frame
Day 1Other outcomes
1
Correlation between dyspnea severity and AAT level.
The correlation between dyspnea severity and AAT level will be assessed by calculating the correlation coefficient between the quantitative serum AAT level (g/L) and the mMRC (Modified Medical Research Council) dyspnea scale score. The mMRC is a 5-point scale (0-4) where 0 means breathlessness only with strenuous exercise and 4 means too breathless to leave the house or breathless when dressing. A higher score indicates worse dyspnea.
Time frame
Day 1Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Muğla Sıtkı Koçman University
Lead sponsor
PROGENIKA BIOPHARMA, A GRIFOLS Company
Collaborator
Source ClinicalTrials.gov