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

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.

Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic.

During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the "COVID-19 Helpline for Rare Bone Diseases" in an attempt to provide high-quality information and expertise on rare bone diseases remotely to patients and healthcare professionals. The present position statement describes the key characteristics of the Helpline initiative, along with the main aspects and topics that recurrently emerged as central for rare bone diseases patients and professionals. The main topics highlighted are general recommendations, pulmonary complications, drug treatment, trauma, pregnancy, children and elderly people, and patient associations role. The successful experience of the "COVID-19 Helpline for Rare Bone Diseases" launched in Italy could serve as a primer of gold-standard remote care for rare bone diseases for the other European countries and globally. Furthermore, similar COVID-19 helplines could be considered and applied for other rare diseases in order to implement remote patients' care.