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NCT Number: NCT05178277

Czech AATD Registry

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.

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Key information

Conditions

Alpha-1-antitrypsin Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Emphysema Genetic Diseases, Inborn Liver Diseases Lung Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Respiratory Tract Diseases Subcutaneous Emphysema alpha 1-Antitrypsin Deficiency

Sex eligibility

All sexes

Study type

Observational

Primary location

Thomayer university hospital

Prague, Czech Republic, 14059, Czechia

Location status: Recruiting

Location contact

Jan Chlumsky, MD

PRINCIPAL_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Patients with alpha-1-antitrypsin deficiency

Exclusion criteria

  • Patient disagreement with inclusion in the study

Treatment and study plan

Primary outcomes

  1. Changes of lung function parameters over time

    Time frame: within one year after completion

    assessement of the rate of decline of FEV1 (ml, %predicted), measured annually

  2. Changes of exercise tolerance tolerance over time

    Time frame: within one year after completion

    assessment of changes of peak oxygen consumption (peakVO2, ml/kg/min) measured every two years

  3. Changes of respiratory function over time

    Time frame: within one year after completion

    assessement of the rate of decline of TLco (mol/min/kPa, %predicted), measured annually

  4. Changes of quality of life over time

    Time frame: within one year after completion

    assessement of the rate of decline of COPD assessment test (CAT, points), measured annually

  5. 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

    Assessement of any possible relationship of primary outcomes 1-3 using LAA (low attenuation area, %) and distribution of emphysema (craniocaudal distribution of emhysema, points)

Secondary outcomes

  1. Behavior of individuals with no or minimal lung involvement

    Time frame: within one year after completion

    Assessement of prognosis of deficient non-smokers by monitoring primary outcome parameters 1-3

  2. Progression of other organ disorders, namely liver

    Time frame: within one year after completion

    Laboratory detection of changes in liver tests (ALT, AST, ALP, GGT, ukat/l)

Study contacts

Contact information is provided by the study sponsor or research team.

Katerina Kusalova, Ing

CONTACT

[email protected]

+420723949465

Sponsors and collaborators

Lead sponsor

Thomayer University Hospital

Other

Collaborators

  • Masaryk University

Registry information

Official study title

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

Important dates

Study start
2018
Primary completion
2033
Study completion
2035
First posted
Jan 5, 2022
Registry last updated
Jan 5, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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