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.
Studie Overzicht
Toestand
Conditie
Gedetailleerde beschrijving
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.
Studietype
Inschrijving (Verwacht)
Contacten en locaties
Studiecontact
- Naam: Katerina Kusalova, Ing
- Telefoonnummer: +420723949465
- E-mail: kusalova@biostatistika.cz
Studie Locaties
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Czech Republic
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Praha, Czech Republic, Tsjechië, 14059
- Werving
- Thomayer University Hospital
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Hoofdonderzoeker:
- Jan Chlumsky, MD
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Deelname Criteria
Geschiktheidscriteria
Leeftijden die in aanmerking komen voor studie
- Kind
- Volwassen
- Oudere volwassene
Accepteert gezonde vrijwilligers
Geslachten die in aanmerking komen voor studie
Bemonsteringsmethode
Studie Bevolking
Beschrijving
Inclusion Criteria:
- Patients with alpha-1-antitrypsin deficiency
Exclusion Criteria:
- Patient disagreement with inclusion in the study
Studie plan
Hoe is de studie opgezet?
Ontwerpdetails
Wat meet het onderzoek?
Primaire uitkomstmaten
Uitkomstmaat |
Maatregel Beschrijving |
Tijdsspanne |
|---|---|---|
|
Changes of lung function parameters over time
Tijdsspanne: within one year after completion
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assessement of the rate of decline of FEV1 (ml, %predicted), measured annually
|
within one year after completion
|
|
Changes of exercise tolerance tolerance over time
Tijdsspanne: within one year after completion
|
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
Tijdsspanne: within one year after completion
|
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
Tijdsspanne: within one year after completion
|
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
Tijdsspanne: 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)
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within one year after completion
|
Secundaire uitkomstmaten
Uitkomstmaat |
Maatregel Beschrijving |
Tijdsspanne |
|---|---|---|
|
Behavior of individuals with no or minimal lung involvement
Tijdsspanne: within one year after completion
|
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
Tijdsspanne: within one year after completion
|
Laboratory detection of changes in liver tests (ALT, AST, ALP, GGT, ukat/l)
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within one year after completion
|
Medewerkers en onderzoekers
Sponsor
Medewerkers
Onderzoekers
- Hoofdonderzoeker: Jan MD Chlumsky, PhD, Thomayer University Hospital
Studie record data
Bestudeer belangrijke data
Studie start (Werkelijk)
Primaire voltooiing (Verwacht)
Studie voltooiing (Verwacht)
Studieregistratiedata
Eerst ingediend
Eerst ingediend dat voldeed aan de QC-criteria
Eerst geplaatst (Werkelijk)
Updates van studierecords
Laatste update geplaatst (Werkelijk)
Laatste update ingediend die voldeed aan QC-criteria
Laatst geverifieerd
Meer informatie
Termen gerelateerd aan deze studie
Trefwoorden
Aanvullende relevante MeSH-voorwaarden
Andere studie-ID-nummers
- IBA1115
Informatie over medicijnen en apparaten, studiedocumenten
Bestudeert een door de Amerikaanse FDA gereguleerd geneesmiddel
Bestudeert een door de Amerikaanse FDA gereguleerd apparaatproduct
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