α1-antitrypsin deficiency (AATD) is a rare and under-recognised genetic condition. Owing to its low prevalence, international initiatives are key for conducting high-quality research in the field. From July 2018 to December 2019, the European Alpha-1 Research Collaboration (EARCO) developed and conducted two surveys, one for healthcare providers and one for patients and caregivers, aiming to identify research priorities and barriers in access to treatment for AATD. A survey on 164 research questions was electronically sent to 230 AATD experts in Europe, and 94 completed surveys from 24 countries were received. The top research areas identified by healthcare providers were causes of variable progression and poor outcomes, improvement in diagnosis, initiation and optimal dosing of augmentation therapy and effectiveness of self-management interventions. During the same period, 438 surveys were completed by patients and caregivers from 26 countries. The top research areas identified were improving knowledge about AATD, in particular among general practitioners, access to AATD specialised centres and access to reliable, easy to understand information about living with AATD. Regarding barriers to treatment, participants from countries where augmentation therapy was reimbursed prioritised improving knowledge in AATD, while respondents in non-reimbursed countries regarded access to AATD augmentation therapy and to specialised centres as the most relevant. The main research and management priorities identified by healthcare providers and patients included understanding the natural history of AATD, improving information to physicians, improving access to specialised reference centres, personalising treatment and having equal opportunities for access to existing therapies.

Alpha 1 UK Support Group Droitwich UK

Alpha1 Deutschland e 5 Gernsheim Germany

Dept of Genetics and Clinical Immunology National Institute of Tuberculosis and Lung Diseases Warsaw Poland

Dept of Internal Medicine and Therapeutics Pneumology Unit IRCCS San Matteo Hospital Foundation University of Pavia Pavia Italy

Dept of Medicine Pulmonary and Critical Care Medicine University Medical Centre Giessen and Marburg Philipps University Member of the German Centre for Lung Research Marburg Germany

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

Dept of Respiratory Medicine Allergology and Pulmonary Oncology Poznań University of Medical Sciences Poznan Poland

Dept of Respiratory Medicine University Hospitals of Coventry and Warwickshire Coventry UK

Division of Pulmonology University Hospital Zurich Zurich Switzerland

European Lung Foundation Sheffield UK

Pneumology Dept Hospital Universitari Vall d'Hebron Vall d'Hebron Institut de Recerca Vall d'Hebron Barcelona Hospital Campus Barcelona Spain

Pulmonology Dept Centro Hospitalar do Porto Porto Portugal

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