Clinical trial NCT05178277: Czech AATD Registry
Official title: Czech Alpha-1 Antitrypsin Deficiency Registry, the National Observational Study.
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Alpha-1-antitrypsin Deficiency
Keywords: Alpha-1-antitrypsin deficiency
AATD
national registry
Lead sponsor: Thomayer University Hospital
Sponsor class: OTHER
Collaborators: name: Masaryk University
First posted: 2022-01-05
Enrollment: 300
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with alpha-1-antitrypsin deficiency

Brief 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.

Detailed 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.

Eligibility criteria: Inclusion Criteria:

* Patients with alpha-1-antitrypsin deficiency

Exclusion Criteria:

* Patient disagreement with inclusion in the study

Primary outcomes:
measure: Changes of lung function parameters over time
timeFrame: within one year after completion
measure: Changes of exercise tolerance tolerance over time
timeFrame: within one year after completion
measure: Changes of respiratory function over time
timeFrame: within one year after completion
measure: Changes of quality of life over time
timeFrame: within one year after completion
measure: Relationship of pulmonary function and lung CT densitometry to better determine phenotypes of COPD due to AAT deficiency
timeFrame: within one year after completion
Secondary outcomes:
measure: Behavior of individuals with no or minimal lung involvement
timeFrame: within one year after completion
measure: Progression of other organ disorders, namely liver
timeFrame: within one year after completion
Other outcomes:
Locations:
city: Praha
country: Czechia
facility: Thomayer university hospital
state: Czech Republic
Study officials:
affiliation: Thomayer University Hospital
name: Jan MD Chlumsky, PhD
role: PRINCIPAL_INVESTIGATOR
References: