Abstract
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.
Footnotes
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Conflict of interest: Dr. Barrecheguren reports speaker fees from Grifols, Menarini, CSL Behring, Boehringer Ingelheim, GSK, consulting fees from GSK and Novartis, outside the submitted work.
Conflict of interest: Miss. O'Hara reports non-financial support from ELF/ERS, non-financial support from Mereo BioPharma Group PLC, the Alpha-1 UK Support Group has received grants from CSL Behring and also receives donations from individuals/companies as a result of fundraising activities, personal fees and non-financial support from NICE, non-financial support from Alpha-1 Global, outside the submitted work. Dr. O'Hara has nothing to disclose.
Conflict of interest: M. Wilkens reports reimbursement of travel costs by the European Lung Foundation during the conduct of the study; and as chairman of the patient organisation Alpha1 Deutschland e.V., does not personally receive any donations, but the organisation receives money from public funds as well as from the pharmaceutical industry (grants as well as, e.g. travel costs).
Conflict of interest: Ms. Boyd reports and Employee of the European Lung Foundation.
Conflict of interest: Dr. Kolda has nothing to disclose.
Conflict of interest: Dr. Lara has nothing to disclose.
Conflict of interest: Dr. Chorostowska-Wynimko reports grants, personal fees and non-financial support from Grifols, grants, personal fees and non-financial support from AstraZeneca, grants, personal fees and non-financial support from Pfizer, personal fees and non-financial support from MSD, personal fees and non-financial support from BMS, personal fees from GSK, personal fees from Novartis, personal fees from Chiesi, personal fees from Roche, grants and personal fees from Boehringer-Ingelheim, grants, personal fees and non-financial support from CSL Behring, grants, personal fees and non-financial support from CelonPharma, personal fees from Amgen, personal fees from Lekam, outside the submitted work.
Conflict of interest: Dr. Ilaria Ferrarotti has received speaker and consulting fee from CSL Behring and Grifols
Conflict of interest: Dr. Chlumsky reports personal fees and non-financial support from CSL Behring, personal fees from Astra-Zeneca, personal fees and non-financial support from Glaxo-Smith-Kline, personal fees and non-financial support from Boehringer Ingelheim, personal fees and non-financial support from Actelion, personal fees and non-financial support from Takeda, during the conduct of the study.
Conflict of interest: Dr. Clarenbach reports personal fees from Roche, personal fees from Novartis, personal fees from Boehringer, personal fees from GSK, personal fees from Astra Zeneca, personal fees from Sanofi, personal fees from Vifor, personal fees from Mundipharma, outside the submitted work.
Conflict of interest: T. Greulich reports grants from CSL-Behring, Grifols and Kamada during the conduct of the study; personal fees for lectures and advisory boards from AstraZeneca, Berlin-Chemie, Boehringer Ingelheim, Chiesi, CSL-Behring, Grifols, GSK and Novartis,and grants Grifols and the German Centre for Lung Research (DZL), Marburg, Germany (Deutsches Zentrum für Lungenforschung), outside the submitted work.
Conflict of interest: M. Miravitlles reports speaker fees from AstraZeneca, Boehringer Ingelheim, Chiesi, Cipla, Menarini, Rovi, Bial, Zambon, Sandoz, CSL Behring, Grifols and Novartis, consulting fees from AstraZeneca, Boehringer Ingelheim, Chiesi, GlaxoSmithKline, Bial, Gebro Pharma, CSL Behring, Laboratorios Esteve, Ferrer, Mereo Biopharma, Verona Pharma, Kamada, TEVA, Sanofi, pH Pharma, Novartis and Grifols, and grants from GlaxoSmithKline and Grifols, outside the submitted work.
Conflict of interest: Dr Sucena Sucena reports speaker or consulting fees from Boehringer Ingelheim, CSL Behring, Grifols, Novartis, and personal fees from Bial, Boehringer Ingelheim, CSL Behring, DarSaúde, Gasoxmed, Grifols, Linde, Menarini, Novartis, VitalAire.outside the submitted work.
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- Received July 25, 2020.
- Accepted October 9, 2020.
- Copyright ©ERS 2020
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