COPD, 12(S1):1–1, 2015 ISSN: 1541-2555 print / 1541-2563 online Copyright © Informa Healthcare USA, Inc. DOI: 10.3109/15412555.2015.1021917
PRESENTATION
Preface Marc Miravitlles Pneumology Department, Hospital Universitari Vall d’Hebron, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain
Guidelines recommendations and license and reimbursement decisions by health authorities are usually based on evidence generated by randomised clinical trials that require a large number of patients to demonstrate safety and efficacy of the investigated treatments. It is clear that such trials cannot be conducted to investigate treatments for rare diseases. Alpha-1 antitrypsin deficiency is a rare disease that is associated with increased risk of emphysema in adults and liver disease in adults and children. The respiratory manifestations of the deficiency may vary considerably from near normal lung function at very advanced age to severe respiratory insufficiency in the fourth or fifth decades of life. This extreme variability, together with the low prevalence of the deficiency, represents a challenge for the understanding of the prognosis of the disease at individual level and for the development of randomised trials to investigate the efficacy of the only specific treatment available, the intravenous augmentation therapy with alpha-1 antitrypsin from human serum. In this context, large national and international registries have been extremely useful, because they prospectively collect data from a large sample of individuals followed in real life under different patterns of treatment. Based on data from registries we have accumulated knowledge about the natural history of the disease and the effectiveness of augmentation therapy. Unfortunately, despite data derived from registries, the lack of large and conclusive clinical trials has resulted in different decisions by national health authorities about reimbursement that have generated unacceptable and unethical inequalities in the access to treatment among patients in different countries and even among regions in the same country. In this supplement of the Journal of COPD we present the reality of a large number of national registries from Europe and America in an attempt to disseminate the existing evidence about the characteristics of the disease, its prognosis and access to augmentation therapy in different parts of the world. We want to highlight the contribution of registries to our understanding of the disease and stimulate the collaborative work among them to continue to generate data that will improve the quality of care of our patients. Professor Maurizio Luisetti had the idea for this supplement and invited me to help him in its development. Unfortunately Maurizio passed away unexpectedly soon after we started our work together. His excitement about this project, his friendship, his smile and sense of humor have been my inspiration during the development of the editorial tasks, but nothing will heal the sadness of his absence. The Alpha community dedicates this supplement to his memory.
1
Copyright of COPD: Journal of Chronic Obstructive Pulmonary Disease is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
PRESENTATION
Preface Marc Miravitlles Pneumology Department, Hospital Universitari Vall d’Hebron, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain
Guidelines recommendations and license and reimbursement decisions by health authorities are usually based on evidence generated by randomised clinical trials that require a large number of patients to demonstrate safety and efficacy of the investigated treatments. It is clear that such trials cannot be conducted to investigate treatments for rare diseases. Alpha-1 antitrypsin deficiency is a rare disease that is associated with increased risk of emphysema in adults and liver disease in adults and children. The respiratory manifestations of the deficiency may vary considerably from near normal lung function at very advanced age to severe respiratory insufficiency in the fourth or fifth decades of life. This extreme variability, together with the low prevalence of the deficiency, represents a challenge for the understanding of the prognosis of the disease at individual level and for the development of randomised trials to investigate the efficacy of the only specific treatment available, the intravenous augmentation therapy with alpha-1 antitrypsin from human serum. In this context, large national and international registries have been extremely useful, because they prospectively collect data from a large sample of individuals followed in real life under different patterns of treatment. Based on data from registries we have accumulated knowledge about the natural history of the disease and the effectiveness of augmentation therapy. Unfortunately, despite data derived from registries, the lack of large and conclusive clinical trials has resulted in different decisions by national health authorities about reimbursement that have generated unacceptable and unethical inequalities in the access to treatment among patients in different countries and even among regions in the same country. In this supplement of the Journal of COPD we present the reality of a large number of national registries from Europe and America in an attempt to disseminate the existing evidence about the characteristics of the disease, its prognosis and access to augmentation therapy in different parts of the world. We want to highlight the contribution of registries to our understanding of the disease and stimulate the collaborative work among them to continue to generate data that will improve the quality of care of our patients. Professor Maurizio Luisetti had the idea for this supplement and invited me to help him in its development. Unfortunately Maurizio passed away unexpectedly soon after we started our work together. His excitement about this project, his friendship, his smile and sense of humor have been my inspiration during the development of the editorial tasks, but nothing will heal the sadness of his absence. The Alpha community dedicates this supplement to his memory.
1
Copyright of COPD: Journal of Chronic Obstructive Pulmonary Disease is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
