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Research Project

Evaluation of blood eosinophils in alpha-1-antitripsin deficiency

Principal Investigator:
Maja Omcikus
Center:
University of Belgrade
City/Country:
Belgrade, Serbia
Start date:
January 2026
Status:
Ongoing
Contact E-mail:
majaomcikus@gmail.com
_ALT

Introduction

Alpha-1-antitrypsin deficiency is primarily characterized by neutrophilic airway inflammation as is COPD in non-alpha-1-antitrypsin deficient patients. A subset of COPD patients demonstrate an eosinophilic inflammatory profile (type 2 inflammation), with important implications for prognosis and therapy, including inhaled corticosteroids and other novel interventions. Less is known about patients with alpha-1-antitrypsin deficiency, since they are mostly excluded from large clinical trials

Objectives

Objective 1 : To investigate blood eosinophils counts in individuals with alpha-1 antitrypsin deficency

Objective 2 : To assess whether blood eosinophil counts differ between alpha-1 antitrypsin–deficient individuals with lung disease and those without lung disease (this would include all patients with any form of the lung disease chronic bronchitis, COPD, emphysema, asthma, bronchiectasis, lung cancer)

Objective 3 : To evaluate cross-sectionally the association between elevated eosinophil counts and clinical phenotype, lung function and exacerbations in patients with AATD

Objective 4 : To assess differences in blood eosinophil counts between individuals with the PiZZ and PiSZ genotypes.

Inclusion criteria

Patients with severe alpha-1 deficiency patients, specifically those with Pi*ZZ and Pi*SZ genotype from the European Alpha-1 Research Collaboration (EARCO) registry.

Brief summary

A subset of patients with COPD has been associated with eosinophilic inflammation. However, the role of eosinophils in alpha-1 antitrypsin deficiency remains unclear. It is not known whether eosinophilia occurs at a similar rate as in the general population or whether it is more frequent. By identifying potential differences between these groups, we may define a distinct phenotype within the heterogeneous population of patients with alpha-1 antitrypsin deficiency and better understand its relevance for diagnosis and treatment decisions