Czech AATD Registry

NCT ID: NCT05178277

Last Updated: 2022-01-05

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2018-01-01
• Study Completion Date: 2035-12-31

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.

Conditions

Alpha-1-antitrypsin Deficiency

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

Inclusion Criteria

• Patients with alpha-1-antitrypsin deficiency

Exclusion Criteria

• Patient disagreement with inclusion in the study

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Masaryk University

OTHER

Sponsor Role: collaborator

Thomayer University Hospital

OTHER

Sponsor Role: lead

Responsible Party

Jan Chlumsky, M.D.

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Jan MD Chlumsky, PhD

Role: PRINCIPAL_INVESTIGATOR

Thomayer University Hospital

Locations

Thomayer university hospital

Prague, Czech Republic, Czechia

Site Status: RECRUITING

Countries

Czechia

Central Contacts

Katerina Kusalova, Ing

Role: CONTACT

kusalova@biostatistika.cz

+420723949465

Other Identifiers

IBA1115

Identifier Type: -

Identifier Source: org_study_id