This multistakeholder task force initiative has been established recently to develop a generic data set for undiagnosed patient registries in Europe. The interlinked UnDiagnosed Task Force (IL-UD-TF operates within the framework of The European Joint Action JARDIN, subtask 7.7, and our UnDiagnosed Patients Working Group (UDP WG). The Kick-Off-Meeting on the 27th of May 2024 was very enriching. Many participants gave valuable inputs and experiences in the field of RD and UDP registries. We discussed about the use of artificial intelligence, unified language models, the extension of the “Set of common data elements for rare diseases registration” as well as the conception of recommendations for such a UDP registry data set.
The second meeting was held on the 24th of June 2024. We discussed the scope of this task force, which will focus on the development of a data set for undiagnosed patient registries for Europe. It is important to have multiple stakeholders on board and engage participantion of patients in this task. We are in the process of writing a draft position paper together with all task contributors.
