Patients that want to be considered for SpainUDP Program should register in the “Registro de Pacientes de Enfermedades Raras” (Registry of Patients with Rare Diseases) of the IIER – https://registroraras.isciii.es//. Patients should provide all the clinical information available showing all studies done up to that moment and clinical reports reflecting the current clinical situation of the patient (https://spainudp.isciii.es/information/)
Other requirements necessary for a patient to be included in the Spanish Undiagnosed Disease Cases Program –SpainUDP:
- The combined clinical manifestations of the patient are not attributable to any common disease or to a known Rare Disease
- The case has been extensively studied by other medical professionals without being able to reach a definitive diagnosis
- The patient or his/her legal guardian has given express informed consent for the participation in the program
There are different routes to apply to Access the Program:
- Register in the “Registro de Pacientes de Enfermedades Raras” (Registry of Patients with Rare Diseases) of the IIER (https://registroraras.isciii.es/) as an undiagnosed case (necessary in all cases)
- Send a mail to registro.raras@isciii.es
- Contact with the Information and orientation services (SIO) of FEDER – sio@enfermedades-raras.org with the Association D’Genes – http://www.dgenes.es/ or the Association Objetivo Diagnóstico @objetivodiagnostico
- Be referred by a medical specialist from one of the hospitals collaborating with the program or
- Be referred by a medical specialist from one of the hospitals belonging to the National Health Services, who should accept to collaborate with the SpainUDP program with regard to the diagnosis of their patient