Stockley Robert A
ADAPT Project, Queen Elizabeth Hospital Birmingham , Birmingham , United Kingdom.
COPD. 2015 May;12 Suppl 1:63-8. doi: 10.3109/15412555.2015.1021911.
The study of rare diseases is compromised by its rarity. The establishment of national and international registries can overcome many of the problems and be used for many monogenetic conditions with relatively consistent outcomes and thus lead to a consistency of clinical management by centres of excellence. However, in Alpha-1 antitrypsin deficiency (AATD), the outcome is highly variable in terms of the organ(s) most affected and the diversity of disease penetration and progression. This creates the added difficulty of understanding the disease sufficiently to monitor and advise the patients to the standard required and importantly design and deliver clinical trials that address the many facets of the disease. The development of research registries and centres of excellence provides the necessary expertise and data to further the understanding and management of diseases like AATD though with significant cost implications. The ADAPT programme was established in 1996 with extensive core funding to enable patients to be seen from all regions of the United Kingdom as an addition to the National Health Service without appointment time constraints and with the purpose of collecting extensive state of the art demographics. The model has proven to be highly productive providing new insights especially into the lung disease, generating and delivering on clinical trials and importantly establishing active patient groups and participation.
罕见病研究因其罕见性而受到影响。建立国家和国际登记处可以克服许多问题，并用于许多单基因疾病，这些疾病的结果相对一致，从而使卓越中心的临床管理保持一致。然而，在α-1抗胰蛋白酶缺乏症（AATD）中，就受影响最严重的器官以及疾病的渗透和进展的多样性而言，结果差异很大。这增加了充分了解该疾病以按要求的标准对患者进行监测和提供建议的难度，重要的是设计和开展针对该疾病诸多方面的临床试验。研究登记处和卓越中心的发展提供了必要的专业知识和数据，以进一步了解和管理像AATD这样的疾病，不过这会带来巨大的成本。ADAPT项目于1996年设立，获得了大量核心资金，使来自英国所有地区的患者无需预约时间限制就能就诊，作为国民医疗服务体系的补充，目的是收集广泛的最新人口统计数据。该模式已被证明效率极高，尤其能为肺部疾病提供新见解，开展并推进临床试验，重要的是建立活跃的患者群体并促进患者参与。
