The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone): First year experience of the use of an e-reporting tool

ABSTRACT

Background/Introduction: The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone) was founded in April 2020 and is the affiliated registry of the European Reference Network for Rare Bone Diseases (ERN BOND). Purpose: As bone and mineral conditions are seen by a variety of specialists there is a close connection with the European Registries for Rare Endocrine Conditions (EuRRECa) and its affiliated ERN Rare Endocrine Diseases (Endo-ERN). EuRR-Bone is open not only to centres within these ERNs but also to others and consists of a core registry for all cases and an e-reporting registry for new cases. Methods: The latter is accomplished via an electronic reporting platform, e-REC (e-Reporting of Rare Conditions), a light touch approach that does not collect personally identifiable information. Unique IDs for reported cases are generated instantaneously and emailed to users to be stored locally at reporting centres. Data are available to all collaborators following approval by the joint Data Access Committee of EuRRECa and EuRR-Bone. Results: Until July 2020, 12 centres from 9 different countries joined, of which 5 are ERN BOND members and 10 are Endo-ERN members. A total of 23 adults and 20 children were newly diagnosed with a Bone and Mineral condition. Amongst adults, the most frequently reported conditions were fibrous dysplasia and PTH independent hypercalcemia, while in children pseudohypoparathyroidism and osteogenesis imperfecta were the most reported. Since April 2020, the e-REC platform is also being used to capture the occurrence of a new COVID19 infection in a patient with an existing bone or mineral condition. Conclusion(s) e-REC is a promising tool enabling clinical networks to objectively map conditions and related activity, providing a better understanding of the occurrence of the rare bone and mineral conditions.