Barrecheguren Miriam, O'Hara Karen, Wilkens Marion, Boyd Jeanette, Kolda Ewa, Lara Beatriz, Chorostowska-Wynimko Joanna, Ferrarotti Ilaria, Chlumský Jan, Clarenbach Christian, Greulich Timm, Miravitlles Marc, Sucena Maria
Pneumology Dept, Hospital Universitari Vall d'Hebron, Vall d'Hebron Institut de Recerca, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Alpha-1 UK Support Group, Droitwich, UK.
ERJ Open Res. 2020 Dec 21;6(4). doi: 10.1183/23120541.00523-2020. eCollection 2020 Oct.
α-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.
α-抗胰蛋白酶缺乏症（AATD）是一种罕见且未得到充分认识的遗传病。由于其患病率较低，国际合作对于开展该领域的高质量研究至关重要。2018年7月至2019年12月，欧洲α-1研究协作组（EARCO）开展了两项调查，一项针对医疗服务提供者，另一项针对患者及其护理人员，旨在确定AATD的研究重点和治疗获取障碍。一项关于164个研究问题的调查以电子方式发送给欧洲230名AATD专家，共收到来自24个国家的94份完整调查问卷。医疗服务提供者确定的首要研究领域是病情进展多变和预后不良的原因、诊断的改善、增强治疗的启动和最佳剂量以及自我管理干预措施的有效性。同期，来自26个国家的患者及其护理人员完成了438份调查问卷。确定的首要研究领域是提高对AATD的认识，尤其是在全科医生中，获取AATD专科中心的服务以及获取关于AATD生活的可靠、易懂信息。关于治疗障碍，增强治疗已获报销国家的参与者将提高对AATD的认识列为优先事项，而未获报销国家的受访者则认为获取AATD增强治疗和专科中心服务最为重要。医疗服务提供者和患者确定的主要研究和管理重点包括了解AATD的自然病史、改善向医生提供的信息、改善获取专科参考中心的服务、个性化治疗以及平等获得现有治疗的机会。
