To enroll in the SpainUDP Program, it is necessary to register through the Rare Diseases Patient Registry platform. Please ensure that you provide all available clinical information confirming the absence of a diagnosis, including any studies performed to date and your current medical status. You will also be required to sign an informed consent form.
The registration application may be submitted by:
The patient themselves.
Their parents or legal guardians.
The medical specialist treating the patient, with the patient’s or their guardians’ consent.
Eligibility requirements to participate:
The combination of clinical manifestations must not be clearly identifiable or attributable to a known rare disease.
A preliminary genetic study must have been conducted at the patient’s local hospital or medical center. This study should include a CGH array, preferably with a minimum resolution of 180K.
The case must not be awaiting results from clinical or genetic tests that could lead to a diagnosis.
The case must not be under investigation by another undiagnosed rare diseases program.
The patient must reside in Spain.