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.
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.
Study Type
OBSERVATIONAL
Enrollment
300
Thomayer university hospital
Prague, Czech Republic, Czechia
RECRUITINGChanges of lung function parameters over time
assessement of the rate of decline of FEV1 (ml, %predicted), measured annually
Time frame: within one year after completion
Changes of exercise tolerance tolerance over time
assessment of changes of peak oxygen consumption (peakVO2, ml/kg/min) measured every two years
Time frame: within one year after completion
Changes of respiratory function over time
assessement of the rate of decline of TLco (mol/min/kPa, %predicted), measured annually
Time frame: within one year after completion
Changes of quality of life over time
assessement of the rate of decline of COPD assessment test (CAT, points), measured annually
Time frame: within one year after completion
Relationship of pulmonary function and lung CT densitometry to better determine phenotypes of COPD due to AAT deficiency
Assessement of any possible relationship of primary outcomes 1-3 using LAA (low attenuation area, %) and distribution of emphysema (craniocaudal distribution of emhysema, points)
Time frame: within one year after completion
Behavior of individuals with no or minimal lung involvement
Assessement of prognosis of deficient non-smokers by monitoring primary outcome parameters 1-3
Time frame: within one year after completion
Progression of other organ disorders, namely liver
Laboratory detection of changes in liver tests (ALT, AST, ALP, GGT, ukat/l)
Time frame: within one year after completion
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