Czech AATD Registry

Alpha-1-antitrypsin Deficiency Clinical Trial

Official title:

Czech Alpha-1 Antitrypsin Deficiency Registry, the National Observational Study.

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05178277
• Other study ID #: IBA1115
• Status: Recruiting
• Start date: January 1, 2018
• Est. completion date: December 31, 2035

Study information

• Verified date: December 2021
• Source: Thomayer University Hospital
• Contact: Katerina Kusalova, Ing
• Phone: +420723949465
• Email: kusalova[@]biostatistika.cz
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

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.

Description:

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: December 31, 2035
• Est. primary completion date: December 31, 2033
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Patients with alpha-1-antitrypsin deficiency

Exclusion Criteria:

• Patient disagreement with inclusion in the study

Related Conditions & MeSH terms

• Alpha 1-Antitrypsin Deficiency
• Alpha-1-antitrypsin Deficiency

Locations

Country	Name	City	State
Czechia	Thomayer university hospital	Praha	Czech Republic

Sponsors (2)

Lead Sponsor	Collaborator
Thomayer University Hospital	Masaryk University

Country where clinical trial is conducted

Czechia, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Changes of lung function parameters over time	assessement of the rate of decline of FEV1 (ml, %predicted), measured annually	within one year after completion
Primary	Changes of exercise tolerance tolerance over time	assessment of changes of peak oxygen consumption (peakVO2, ml/kg/min) measured every two years	within one year after completion
Primary	Changes of respiratory function over time	assessement of the rate of decline of TLco (mol/min/kPa, %predicted), measured annually	within one year after completion
Primary	Changes of quality of life over time	assessement of the rate of decline of COPD assessment test (CAT, points), measured annually	within one year after completion
Primary	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)	within one year after completion
Secondary	Behavior of individuals with no or minimal lung involvement	Assessement of prognosis of deficient non-smokers by monitoring primary outcome parameters 1-3	within one year after completion
Secondary	Progression of other organ disorders, namely liver	Laboratory detection of changes in liver tests (ALT, AST, ALP, GGT, ukat/l)	within one year after completion