Antitrypsin Deficiency Assessment and Programme for Treatment (ADAPT): The United Kingdom Registry.

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.