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Recruiting NCT05178277

Czech AATD Registry

Observational Alpha-1-antitrypsin Deficiency

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Alpha-1-antitrypsin Deficiency. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Czechia
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Official title

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

Overview

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.

Primary outcome measures

  • Changes of lung function parameters over time [Time frame: within one year after completion]
  • Changes of exercise tolerance tolerance over time [Time frame: within one year after completion]
  • Changes of respiratory function over time [Time frame: within one year after completion]
  • Changes of quality of life over time [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 [Time frame: within one year after completion]
Secondary outcome measures (2)
  • Behavior of individuals with no or minimal lung involvement [Time frame: within one year after completion]
  • Progression of other organ disorders, namely liver [Time frame: within one year after completion]

Eligibility criteria

Inclusion criteria

  • Patients with alpha-1-antitrypsin deficiency

Exclusion criteria

  • Patient disagreement with inclusion in the study

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

Czechia · 1 center
  • Thomayer university hospital — Prague

Identifiers

NCT: NCT05178277 · IBA1115

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗