Czech Alpha-1 Antitrypsin Deficiency Registry, the National Observational Study.
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Changes of lung function parameters over time
研究概览
简要总结
Alpha-1-antitrypsin deficiency is the most common congenital disease of the respiratory system, leading to early pulmonary emphysema or bronchiectasis. Pulmonary involvement significantly accelerates active cigarette smoking. Patients with alpha-1-antitrypsin deficiency may also have liver cirrhosis, vasculitis, skin or intestinal disorders.
The AATD Registry is a non-interventional multicenter retrospective prospective longitudinal follow-up of patients with alpha-1-antitrypsin deficiency.
The aim of the AATD National Registry is to collect and analyze clinical data in patients with alpha-1 antitrypsin deficiency.
详细描述
Alpha-1 antitrypsin deficiency is a genetic disorder that may result in lung disease or liver disease. It is assume that it affects 1 person from a cohort of 2,000-5,000 people of the general population. Among patients with COPD, the incidence of the disorder is significantly higher. The prognosis of these patients is incomparably worse compared to classic COPD, because it affects younger patients and the rate of lung tissue loss is faster. The diagnosis is made in patients with pre-existing COPD by examination of the plasma concentration of AAT. In case of its reduction, genetic examination is added. The progression of the disease is rapid and has been shown to be slowed by lifelong augmentation treatment with human AAT. However, in routine clinical practice, it is very difficult to assess the effectiveness of treatment, the progression of lung disease or the prognosis of the disease.
The AATD registry is a non-interventional multicenter retrospective prospective longitudinal follow-up of patients with alpha-1-antitrypsin deficiency. The national registry collects data from all patients with severe or rare AAT deficiency, regardless of the type of organ impairment and age, and thus provides a view of this genetic variation in the Czech population.
The aim of the AATD Registry is to collect and analyse clinical data of patients with alpha-1 antitrypsin deficiency and increase the professional awareness of this hereditary disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with alpha-1-antitrypsin deficiency
排除标准
- •Patient disagreement with inclusion in the study
结局指标
主要结局
Changes of lung function parameters over time
时间窗: within one year after completion
assessement of the rate of decline of FEV1 (ml, %predicted), measured annually
Changes of exercise tolerance tolerance over time
时间窗: within one year after completion
assessment of changes of peak oxygen consumption (peakVO2, ml/kg/min) measured every two years
Changes of respiratory function over time
时间窗: within one year after completion
assessement of the rate of decline of TLco (mol/min/kPa, %predicted), measured annually
Changes of quality of life over time
时间窗: within one year after completion
assessement of the rate of decline of COPD assessment test (CAT, points), measured annually
Relationship of pulmonary function and lung CT densitometry to better determine phenotypes of COPD due to AAT deficiency
时间窗: within one year after completion
Assessement of any possible relationship of primary outcomes 1-3 using LAA (low attenuation area, %) and distribution of emphysema (craniocaudal distribution of emhysema, points)
次要结局
- Progression of other organ disorders, namely liver(within one year after completion)
- Behavior of individuals with no or minimal lung involvement(within one year after completion)
研究者
Jan Chlumsky, M.D.
Principal Investigator
Thomayer University Hospital