Research priorities in α₁-antitrypsin deficiency: results of a patients' and healthcare providers' international survey from the EARCO Clinical Research Collaboration

Abstract

IntroductionAlpha-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.MethodFrom 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.ResultsA 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.ConclusionThe 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.

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

“…9 Department of Pneumology, Thomayer Hospital, First Faculty of Medicine, Charles University, Prague, Czech Republic. 10 Pulmonology Department, Hospital da Senhora da Oliveira, Guimarães, Portugal. 11 Servicio de Neumología.…”

“…Some 20 years ago, the Alpha-1 International Registry (AIR) tried to harmonise the collection of prospective data from different European and non-European countries and included more than 4000 patients with severe AATD [8], but less than 400 had long-term follow-up [9]. The standardised collection of follow-up data of patients with AATD from different countries and under different regimens of treatment in a large international registry was an unmet need identified by patients and researchers [10]. Similarly, the European Commission [11] and the European Respiratory Society (ERS) [12] recommended the setup of large international registries to collect structured, prospective data to better understand the natural history of AATD.…”

Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews

“…Some patients with AATD have been reported to be "fast decliners", as measured by CT lung density [13] and FEV 1 [124]. However, the minimum clinically important difference for either of these outcomes in patients with AATD has not been established [13,14,88,[125][126][127][128].…”

Opinions and Attitudes of Pulmonologists About Augmentation Therapy in Patients with Alpha-1 Antitrypsin Deficiency. A Survey of the EARCO Group

“…Since AATD is a rare disease, it is difficult for a practicing physician or a single clinical center to accumulate enough experience to make informed decisions about AT and this may lead to significant differences in management between countries and even centers in the same country. 15 Consequently, the EU council 25 and the ERS statement 16 recommend that patients with AATD should be attended in expert reference centers. In this respect, in almost half of the 500 cases there were dissenting opinions about initiating AT among the three evaluators.…”

“…Investigation about variability of prescription of AT and associated factors was identified as a research priority by the European Alpha-1 antitrypsin Research Collaboration (EARCO), see www.earco.org . 16 Therefore, a cross-sectional, survey was conducted between April and December 2018 among European AATD expert pulmonologists identified from the EARCO network. 17 The study involved the remittance of a survey to a group of previously selected experts, with the goal of identifying the most important factors influencing the decision to initiate AT in patients with AATD.…”