ESPE2022 Rapid Free Communications Bone, Growth Plate and Mineral Metabolism (6 abstracts)
The European Registries for Rare Bone and Mineral Conditions: Registering New Cases of Paediatric Rare Bone and Mineral Conditions Using an Electronic Reporting Tool
Ana Luisa Priego Zurita 1 , Jillian Bryce 2 , Inês Alves 3,4 , Manila Boarini 5 , Corinna Grasemann 6 , Wolfgang Högler 7 , M Kassim Javaid 8 , Agnès Linglart 9 , Klaus Mohnike 10 , Marina Mordenti 5 , Geert Mortier 11 , Marco Roos 12 , Luca Sangiorgi 5 , Rebecca Skarberg 3,13 , Ondrej Soucek 14 , S Faisal Ahmed 1,2,15 & Natasha M Appelman-Dijkstra 1
1Leiden University Medical Centre, Department of Medicine, Division of Endocrinology, Leiden, Netherlands; 2University of Glasgow, Office for Rare Conditions, Glasgow, United Kingdom; 3ERN Bond ePAG Representative, Bologna, Italy; 4ANDO Portugal, Évora, Portugal; 5IRCCS Istituto Ortopedico Rizzoli, Department of Rare Skeletal Disorders, Bologna, Italy; 6Ruhr-University Bochum, Department of Pediatrics- St. Josef Hospital, Bochum, Germany; 7Johannes Kepler University, Department of Paediatrics and Adolescent Medicine Linz, Linz, Austria; 8University of Oxford, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford, United Kingdom; 9AP-HP, Paris Saclay University Department of Pediatric Endocrinology and Diabetology for Children, Le Kremlin Bicetre, France; 10Otto-Von-Guericke-Universitaet Magdeburg, Magdeburg, Germany; 11Centre of Human Genetics, UZ Leuven, Leuven, Belgium; 12Leiden University Medical Centre, Human Genetics, Leiden, Netherlands; 13Osteogenesis Imperfecta Federation Europe, Eindhoven, Netherlands; 14Fakultni Nemocnice V Motole, Praha, Czech Republic; 15University of Glasgow, Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, United Kingdom
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.
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