Spanish rare disease registries research network: First results of Spain-RDR’s project in navarre

Abstract

Background. The Spanish Rare Disease Registries Research Network, Spain-RDR, was a project of the Carlos III Health Institute (2012-2015) in which all the Autonomous Communities participated. The initial results for Navarre are presented. Methods. The Minimum Basic Data Set for 2010-2011 was explored to assess the collection of possible cases of rare diseases in Navarre (pilot study). The information was later extended in both time (the year 2012) and sources consulted (Mortality Statistics and Temporary Disability Registry). Results. Navarre identified 9,420 possible cases amongst the 8,141 residents in the pilot study, reaching 13,494 cases amongst the 11,644 people obtained with the extension of time and sources. Thirty-eight percent of the cases corresponded to endocrine, metabolic and immune diseases, and congenital anomalies. Conclusions. It is necessary to expand the sources and the period of data collection, as well as to validate the cases registered in order to know the real magnitude of the problem as a whole and for each specific disease included in the registry.