The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone) aims to realise improved, harmonised healthcare for people living with rare bone and mineral conditions (RBMCs) across Europe. Our focus includes over 150 severe rare bone diseases that affect cartilage, bones and dentin and more than 40 severe rare diseases affecting phosphate and calcium metabolism. In this project, we will establish the first pan-European registry in RBMCs.
RBMCs constitute a complex group of diseases with evident need for better and more harmonised care. The lack of natural history data is significant, and the quality of care and expertise varies across regions and in many countries is still unclear. Depending on first symptoms and local healthcare processes, a wide variety of healthcare specialists can be involved in the process. Until recently, there was limited cross-disciplinary alignment: each discipline had its own network, conference, guidelines and even registries. The European Reference Network on Bone Disorders (ERN BOND) has taken the lead to better organise the field, to harmonise and improve RBMCs healthcare.
Specifically, in this project, a core group of ERN BOND healthcare providers, affiliated centres and experts will:
• Establish a centralised registry for RBMCs within the scope of ERN BOND in collaboration with the already established European Registry for Rare Endocrine Conditions, EuRRECa, covering a core longitudinal minimal data set to capture their natural history from both clinician and patient perspectives.
• Establish four disease specific modules on Fibrous Dysplasia/McCune Albright syndrome (FD/MAS), Osteogenesis Imperfecta (OI), Rare Hypophosphatemia and Achondroplasia (ACHO), that capture genetic, clinical and patient related outcome measures in a scalable manner to other RBMCs.
• Provide a platform that enables detailed local, disease-specific registries on rare bone and mineral disorders to connect to EuRR-Bone.