Implementing a population-based rare diseases registry in Spain: the Navarre´s experience

In 2012, the Spanish Rare Disease Registries Research Network (Spain-RDR) was consolidated with the aim of creating a Spanish population-based Rare Diseases Registry. In order to achieve this, each of the 17 Spanish Regions had to develop its own regional registry with a common agreed methodology. The Population-based Rare Disease Registry of Navarre was created in 2013 and, since then, its implementation is been carried out. Initially, the main data source used to capture cases was the Assisted Morbidity Registry of Navarre, which includes the Minimum Basic Data Set of every regional hospital discharges (both public and private). Afterwards, new data sources were been added and ongoing validation studies of captured cases were been developed. Due to the low prevalence of these diseases, a high false positives rate among the detected cases greatly affects the estimation of epidemiological indicators, which makes it necessary to validate the cases by verifying the diagnoses. More information about the registry you can find here.