Registro Nacional de Enfermedades Raras. Proyecto SpainRDR. Asturias

Abstract

The objective of this collaborative research project internationally and in Spain, in particular, is to implement a national registry of rare diseases (RD) combining methodologies designs and population-based records with patients. It develops from the contribution of the Ministries of Health of the Autonomous Communities, the Instituto de Salud Carlos III-Research Institute for Rare Diseases (ISCIII-IIER) and partners from diverse backgrounds. The overall objective is intended to be improving the prevention, diagnosis, prognosis, treatment and quality of life of patients with rare diseases and their families from information of high validity and standardized procedures. The results of this work, partial because it is an ongoing project (2012-2014), show that during the year 2012 has been established in a timely manner agreed working mechanism. This mechanism, which is in line with international guidelines for research on rare diseases, has allowed to establish the content and structure of information systems and the flow of it in time and within different working nodes. In addition, they have already issued specific reports record systems and patient populations of rare diseases and the different sources of information. Currently working on a pilot project to collect information that assesses whether the availability in the sources, the designed structure and information flows are consistent with established objectives. After evaluating the pilot project decisions will be final and will begin work permanent collection of information. Asturias has worked collecting the information specified in the protocol of the project and already has information that will have a picture of the situation of rare diseases in the last quarter of 2013.