Evaluation of the Relationship Between Dyspnoea and Functional Airway Obstruction in Alpha-1 Antitrypsin Deficiency: A Prospective, Case-Control, Analytical Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 734
- 试验地点
- 1
- 主要终点
- Prevalence of Alpha-1 Antitrypsin Deficiency (AATD)
研究概览
简要总结
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.
详细描述
- Study Objectives and Rationale Alpha-1 Antitrypsin Deficiency (AATD) is a significantly underdiagnosed hereditary disorder that predisposes individuals to early-onset emphysema and chronic obstructive pulmonary disease (COPD), particularly in smokers. The primary objective of this single-center, cross-sectional, analytical study is to determine the prevalence of both quantitative (serum level) and qualitative (genetic mutation) AATD in a targeted, high-risk population: patients presenting to a pulmonary outpatient clinic with shortness of breath (dyspnea) and found to have functional airway obstruction on spirometry.
The study operates on the hypothesis that a subset of patients with airway obstruction, especially those with an early onset or a disproportionate severity of disease relative to their smoking history, may have undiagnosed AATD. By systematically screening this population using both serum level analysis and genetic testing, we aim to identify a previously undetected patient cohort, enabling earlier intervention, family screening, and specific management strategies. 2. Study Design and Methodology This is a prospective, case-control, analytical study conducted at the Chest Diseases Outpatient Clinic of Muğla Training and Research Hospital.
Participant Flow:
- Screening & Identification: Consecutive patients presenting with a chief complaint of dyspnea who are scheduled for routine diagnostic spirometry as part of standard clinical care will be assessed for eligibility.
- Informed Consent: Eligible patients will be provided with a detailed informed consent form explaining the study's purpose, procedures, risks, and benefits.
- Group Allocation: Following spirometry, participants will be allocated into two groups based on their test results:
Case Group (PRISm): Patients with a post-bronchodilator FEV1/FVC ratio ≥ 0.70, FEV1 < 80 Control Group (No Airway Obstruction): Patients with a post-bronchodilator FEV1/FVC ratio ≥ 0.70, FEV1 ≥ 80 4. Data and Sample Collection: All participants will undergo:
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •Renal dysfunction; acute inflammation; rheumatological, haematological, or liver diseases; COPD; asthma; bronchiectasis; and a history of malignancy.
- •Pregnant women and users of oral contraceptives.
结局指标
主要结局
Prevalence of Alpha-1 Antitrypsin Deficiency (AATD)
时间窗: Day 1
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.
次要结局
- Correlation between AATD and smoking status.(Day 1)
研究者
Ozlem Sengoren Dikis
Associate Professor
Muğla Sıtkı Koçman University