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Research Project

Comorbidity patterns and genotype-specific differences in severe alpha-1 antitrypsin deficiency: impact on one-year clinical outcomes

Principal Investigator:
Miriam Barrecheguren / Cristina Esquinas
Center:
Hospital Universitari Vall d'Hebron / Vall d'Hebron Institut de Recerca
City/Country:
Barcelona
Start date:
April 2026
Status:
Ongoing
Contact E-mail:
miriam.barrecheguren@vallhebron.cat / crise4@hotmail.com
_ALT

Introduction

While the pulmonary manifestations of AATD have been widely described, increasing evidence suggests that comorbidities play a relevant role in disease burden, progression, and clinical outcomes, similar to what has been demonstrated in COPD populations. However, the prevalence and patterns of comorbidities in patients with severe AATD, as well as their potential interaction with genotype, remain poorly characterized

Objectives

Primary objective

  • To identify the most frequent comorbidities in patients with moderate or severe AATD (PiSS, PiSZ, and PiZZ genotypes) included in the EARCO registry.

Secondary objectives

  • To describe the most common comorbidity patterns and combinations in this population.
  • To analyze differences in the prevalence and patterns of comorbidities according to genotype (PiSS, PiSZ, PiZZ).
  • To evaluate the association between specific comorbidities and their combinations with clinical outcomes at 1 year, overall and stratified by genotype.

Inclusion criteria

Patients with confirmed moderate or severe AATD (PiSS, PiSZ, and PiZZ genotypes) enrolled in the EARCO registry, with available baseline data and at least 1-year follow-up.

Brief summary

This study will provide novel insights into genotype-specific comorbidity burden and its influence on clinical outcomes in severe AATD. Understanding how comorbidities interact with genetic background may contribute to improved risk stratification and the development of personalized management strategies in AATD.