ESPE2022 Rapid Free Communications Bone, Growth Plate and Mineral Metabolism (6 abstracts)
Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) are closely linked to the European Reference Networks on Rare Bone Diseases (ERN BOND) and Rare Endocrine Conditions (Endo-ERN) and with its registry EuRRECa. It is open to all professionals involved in the care of individuals with rare bone and mineral conditions. EuRR-Bone offers an electronic reporting tool (e-REC) for capturing newly encountered cases without collecting personal data.
Purpose: To describe the generated data on Bone and Mineral conditions via e-REC in the <18 years group from April 2020 to December 2021.
Methods: e-REC users received invitations to complete a monthly online return which collects the number of new paediatric (<18y) and adult (≥18y) cases of conditions that are included in the registry. Conditions are mapped according to ORPHANET codes.
Results: 43 centres from 18 countries are active reporters, of which 28 register paediatric cases. Of 43 centres, 18 are ERN BOND members, 26 are Endo-ERN members and 14 have no ERN affiliation. A total of 361 adult and 435 paediatric new cases of Bone or Mineral conditions were registered. Amongst children, 161 and 274 new cases of bone mineral and bone dysplasia conditions respectively were reported. Within the bone mineral group, the most frequently reported were X-linked hypophosphataemia (52/161 cases,32%), pseudohypoparathyroidism (39/161 cases,24%) and hypoparathyroidism (25/161,16%). Within the bone dysplasia group, osteogenesis imperfecta (70/274,26%), achondroplasia (63/274,23%) and fibrous dysplasia/McCune-Albright Syndrome (39/274,14%) were the most frequently reported. An increase in the number of reporting centres from 12 to 43 and in the total number of cases from 23 to 800 cases, was documented in e-REC during the second year of activity.
Conclusion: e-REC is an easy-to-use online tool that objectively maps the occurrence of rare bone and mineral conditions among centres and countries. The growing e-REC user community and number of reported cases have facilitated the development of related projects such as secondary surveys that aim to collect relevant data for understanding specific aspects of the reported conditions.
15 Sep 2022 - 17 Sep 2022