The third meeting of our Undiagnosed Patients Working Group (UDP WG) took place on the 22nd of January.
We formed this group with the aim of developing a guideline or patient pathway for the referral of undiagnosed patients to the ERN, which is a very unique process and to our knowledge has not been defined before. We agreed that a structured process is needed and waiting times need to be reduced. Therefore, we want to define lead symptoms and prerequisite diagnostic procedures to exclude more common rare diseases in undiagnosed patients.
We are very happy that the AETSA team joined our meeting again and supports this WG with the scientific basis of the diagnostic patient pathway. Currently, the WG members are reviewing the search strategy of AETSA to add specific terms. While AETSA is carrying out an initial exploratory search on agreed diseases, the WG members are structuring into task force groups and will soon start to define prerequisite diagnostic procedures. Both these work streams will hopefully lead to consensus results to begin building the pathway.
