Research Priorities in alpha-1 antitrypsin deficiency: Results of a patients' and healthcare providers' international survey from the EARCO Clinical Research Collaboration

Introduction Alpha-1 antitrypsin deficiency (AATD) is a rare and under-recognised genetic condition. Due to its low prevalence, international initiatives are key to conduct high quality research in the field. Method From July 2018 to December 2019, EARCO (European Alpha-1 Research Collaboration) developed and conducted two surveys, one for health care professionals (HCP) and one for patients and caregivers aiming to identify research priorities and barriers in access to treatment in AATD. Results A survey on 164 research questions was electronically sent to 230 AATD experts in Europe, and 94 completed questionnaires from 24 countries were received. The top questions identified by HCP 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, a total of 438 questionnaires 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 to reliable, easy to understand information about living with AATD. Regarding barriers to treatment, participants from countries where augmentation therapy was reimbursed prioritised also improving knowledge in AATD, while for respondents in non reimbursed countries access to AATD augmentation therapy and to specialised centres were the most relevant. Conclusion The main research and management priorities identified by HCPs and patients included understanding the natural history of AATD; improving information to physicians, access to specialised, reference centers; personalising the treatment and having equal opportunities for access to existing therapies.