“The European Union (EU) and Member States should support the creation and the management of Alpha-1 patient registries and seek advice of Alpha-1 experts who are already running them”. This is the recommendation number 15 of the Document on Recommendations of the Alpha-1 Expert Group, initiated and chaired by Members of the European Parliament in October 2011 (http://www.alpha1awareness.org.uk/wp-content/uploads/2013/08/Alpha1-in-the-European-Union-Expert-Recommendations_electonic-copy.pdf). Fortunately, there are already National and International registries established for alpha-1 antitrypsin deficiency (AATD), but it is not clear how often the EU and Member States seek advice of experts. Anyway, it is widely recognised that registries provide relevant information about rare diseases such as AATD. In fact, most of what we know about the natural history of the disease, and even regarding the effectiveness of augmentation therapy, comes from data obtained from registries.
After more than 20 years of registries, it is time to evaluate what has been done and look into the future. In the next Supplement of COPD: Journal of Chronic Obstructive Pulmonary Disease a series of articles will present the structure, organisation, and some peculiarities of the most important registries of AATD around the world. Their results will provide data not only on natural history, but on gender differences, characteristics of individuals with different deficient genotypes, new measures of bronchial and lung inflammation, new measures of severity, impact of second-hand smoke on the evolution of lung disease, and many other aspects that will be of interest to clinicians and researchers.
Another interest of this Supplement is to observe what these registries have in common and how could they eventually merge their data to create a large multinational registry with the objective to improve our knowledge about the natural history of the disease under different circumstances, treatments and health systems. Europe has led the initiative of the Alpha-1 International Registry (A.I.R.), which has been an excellent platform for the development of clinical trials and has created awareness of the disease in many countries, basically in Europe. However, collection of good quality follow-up data is challenging. Hopefully, the new technologies will help us to develop more efficient strategies to follow our patients long-term under real-life circumstances.
Behind the successful registries there are always specialised centres that take care of all organisational aspects, such as database design, compliance and legal issues, quality control of data and support for patients management. These are the “reference centres” or “expert centres” as defined by the EU. The Rare Disease Task Force of the EU recommended in 2006 that the Member States should “contribute to the identification of their expert centres and support them financially as much as possible”. The future of registries of rare diseases is linked to the development of expert centres. The results of the management of some national registries of AATD by expert centres will be reported in the articles presented in the next Supplement of the Journal.
Usually the presentation of an initiative is a source of good expectations and joy, but today we cannot hide our deep sadness, because Maurizio is not signing this presentation with us. Professor Maurizio Luisetti (Pavia, Italy) had the idea of this Supplement and he spread his enthusiasm to us and to the invited authors. He was devoted to select the best authors and to edit an issue that should be a reference publication for the current and future generations of professionals interested in AATD. Unfortunately, he passed away before he could see the supplement published. We are sure that he would be more than satisfied with the final result, which will be dedicated to his memory. Those, like us, who had the privilege to work with him will never forget the clinician, the researcher, the teacher, the gentleman …… and the friend Maurizio.
Ciao amico.