The Spanish Undiagnosed Rare Diseases Program – known by its acronym SpainUDP, was created by the Institute of Rare Diseases Research (IIER), of the Institute of Health Carlos III (ISCIII) to provide a response to the large number of enquiries that the IIER receives every year about RD cases with no specific diagnosis. SpainUDP started in 2013 as a pilot project and it was presented at the first Undiagnosed Diseases Network International UDNI that took place in Rome 2014. The pilot phase ended in 2015, when the IIER-ISCIII signed an agreement with the Foundation for Biomedical Research of the University Hospital Puerta de Hierro, Madrid (HUPH) where a detailed multidisciplinary clinical examination and any needed complementary studies are carried out in those cases admitted in the program that required it, according to the previous assessment carried out by the SpainUDP team. Furthermore, the program has been included in the “Plan de Mejora de la atención Sanitaria a personas con Enfermedades Poco Frecuentes de la Comunidad de Madrid (2016-2020)” (Program to improve medical attention to persons with Rare Diseases in the Community of Madrid 2016-2020). Recently, other hospitals of the National Heathcare System have contacted the IIER and have contributed cases difficult to diagnose to the Program.
The ISCIII, as founding member of the International Rare Diseases Research Consortium – IRDiRC, takes on all the objectives stated by this consortium, with emphasis on the one related to the diagnosis of patients with rare diseases, and the need to share data relative to diseases difficult to diagnose .
All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline