Czech AATD Registry

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

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.

Study Overview

• Status: Recruiting
• Conditions: 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.

• Study Type: Observational
• Enrollment (Anticipated): 300

Contacts and Locations

• Study Contact: Name: Katerina Kusalova, Ing; Phone Number: +420723949465; Email: kusalova@biostatistika.cz

Study Locations

• Czechia
  • Czech Republic
    • Praha, Czech Republic, Czechia, 14059
      • Recruiting
      • Thomayer University Hospital
      • Principal Investigator: Jan Chlumsky, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Patients with alpha-1-antitrypsin deficiency

Description

Inclusion Criteria:

• Patients with alpha-1-antitrypsin deficiency

Exclusion Criteria:

• Patient disagreement with inclusion in the study

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Changes of lung function parameters over time	assessement of the rate of decline of FEV1 (ml, %predicted), measured annually	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	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	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	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)	within one year after completion

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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
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

Collaborators and Investigators

• Sponsor: Thomayer University Hospital
• Collaborators: Masaryk University
• Investigators: Principal Investigator: Jan MD Chlumsky, PhD, Thomayer University Hospital

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2018
• Primary Completion (Anticipated): December 31, 2033
• Study Completion (Anticipated): December 31, 2035

Study Registration Dates

• First Submitted: November 12, 2021
• First Submitted That Met QC Criteria: December 16, 2021
• First Posted (Actual): January 5, 2022

Study Record Updates

• Last Update Posted (Actual): January 5, 2022
• Last Update Submitted That Met QC Criteria: December 16, 2021
• Last Verified: December 1, 2021

More Information

Terms related to this study

• Keywords: AATD; Alpha-1-antitrypsin deficiency; national registry
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Respiratory Tract Diseases; Lung Diseases; Liver Diseases; Genetic Diseases, Inborn; Subcutaneous Emphysema; Emphysema; Alpha 1-Antitrypsin Deficiency
• Other Study ID Numbers: IBA1115

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No