BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with the objective of characterising the individuals with AATD and investigating their natural history. METHODS: The EARCO registry is an international, observational and prospective study of individuals with AATD, defined as AAT serum levels < 11 μM and/or proteinase inhibitor genotypes PI*ZZ, PI*SZ and compound heterozygotes or homozygotes of other rare deficient variants. We describe the characteristics of the individuals included from February 2020 to May 2022. RESULTS: A total of 1044 individuals from 15 countries were analysed. The most frequent genotype was PI*ZZ (60.2%), followed by PI*SZ (29.2%). Among PI*ZZ patients, emphysema was the most frequent lung disease (57.2%) followed by COPD (57.2%) and bronchiectasis (22%). Up to 76.4% had concordant values of FEV1(%) and KCO(%). Those with impairment in FEV1(%) alone had more frequently bronchiectasis and asthma and those with impairment in KCO(%) alone had more frequent emphysema and liver disease. Multivariate analysis showed that advanced age, male sex, exacerbations, increased blood platelets and neutrophils, augmentation and lower AAT serum levels were associated with worse FEV1(%). CONCLUSIONS: EARCO has recruited > 1000 individuals with AATD from 15 countries in its first 2 years. Baseline cross sectional data provide relevant information about the clinical phenotypes of the disease, the patterns of functional impairment and factors associated with poor lung function. Trial registration www. CLINICALTRIALS: gov (ID: NCT04180319).

Centro de Investigación Biomédica en Red de Enfermedades Respiratorias Instituto de Salud Carlos 3 Madrid Spain

Clinic for Respiratory Diseases University Hospital Center Zagreb Zagreb Croatia

Department of Internal Medicine and Therapeutics University of Pavia Pavia Italy

Department of Pneumology Thomayer Hospital 1st Faculty of Medicine Charles University Prague Czech Republic

Department of Pulmonology Leiden University Medical Center Leiden The Netherlands

Department of Respiratory Diseases University Hospitals Leuven Leuven Belgium

Department of Respiratory Medicine and Allergology Skåne University Hospital Lund University Malmö Sweden

Department of Respiratory Medicine University Hospitals of Coventry and Warwickshire Clifford Bridge Road Coventry UK

Division of Pulmonology University Hospital Zurich Zurich Switzerland

Institute of Applied Health Research University of Birmingham Birmingham UK

Laboratory of Respiratory Diseases Department of Chronic Disease Metabolism and Ageing Katholieke Universiteit Leuven Leuven Belgium

Pneumology Department Hospital Universitari Vall d'Hebron; Vall d'Hebron Institut de Recerca Vall d'Hebron Barcelona Hospital Campus Passeig Vall d'Hebron 119 129 08035 Barcelona Spain

Pneumology Department Hospital Universitario Central de Asturias Instituto de Investigacion Sanitaria del Principado de Asturias Oviedo Spain

Pneumology Department Hospital Universitario Nuestra Señora de La Candelaria Santa Cruz de Tenerife Spain

Pneumology Section Hospital Sierrallana TresMares Cantabria Spain

Pneumology Unit IRCCS San Matteo Hospital Foundation Pavia Italy

Pulmonology Department Hospital da Senhora da Oliveira Guimarães Portugal

Research Institute of Hospital Clínico San Carlos Madrid Spain

Respiratory Medicine University Hospitals Birmingham NHS Foundation Trust Birmingham UK

School of Medicine University of Zagreb Zagreb Croatia

Servicio de Neumología Complejo Hospitalario Clínico Universitario de Santiago Santiago de Compostela Spain

Servicio de Neumología Hospital Álvaro Cunqueiro NeumoVigo 1 I Research Group IIS Galicia Sur Vigo Spain

Servicio de Neumología Hospital Clínico de San Carlos Departamento de Medicina Facultad de Medicina Universidad Complutense de Madrid Madrid Spain

Servicio de Neumología Hospital Clínico Universitario de Valencia Instituto de Investigación INCLIVA Valencia Spain

Servicio de Neumología Hospital Clínico Universitario San Cecilio Departamento de Medicina Facultad de Medicina Universidad de Granada Granada Spain

Unidad Médico Quirúrgica de Enfermedades Respiratorias Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío Universidad de Sevilla Sevilla Spain

Respir Res. 2023 Feb 18;24(1):57. doi: 10.1186/s12931-023-02340-6. PubMed

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Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project

Correction: Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry

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ClinicalTrials.gov
NCT04180319