ESPE2023 Poster Category 1 Bone, Growth Plate and Mineral Metabolism (46 abstracts)
The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone): Collecting Core Data Elements and Clinician and Patient-Reported Outcomes
Ana Luisa Priego Zurita , Mariya Cherenko , Inês Alves , Manila Boarini , Corinna Grasemann , Wolfgang Högler , M Kassim Javaid , Agnès Linglart , Klaus Mohnike , Marina Mordenti , Tess M de Rooij , Marco Roos , Luca Sangiorgi , Rebecca Skarberg , Ondrej Soucek , S Faisal Ahmed & Natasha M Appelman-Dijkstra
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands. ERN BOND ePAG Representative, Bologna, Italy. Ando Portugal, Évora, Portugal. IRCCS Istituto Ortopedico Rizzoli, Department of Rare Skeletal Disorders, Bologna, Italy. Ruhr-University Bochum, Department of Pediatrics- St. Josef Hospital, Bochum, Germany. Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria. Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, United Kingdom. AP-HP, Paris Saclay University Department of Pediatric Endocrinology And Diabetology for Children, Le Kremlin Bicetre, France. Otto-Von-Guericke-Universitaet Magdeburg, Magdeburg, Germany. Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands. Osteogenesis Imperfecta Federation Europe (OIFE), Antwerpen, Belgium. Fakultni Nemocnice V Motole, Praha, Czech Republic. University of Glasgow, Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, United Kingdom. University of Glasgow, Office for Rare Conditions, Glasgow, United Kingdom
Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) was created in collaboration with the European Reference Network on Rare Bone Diseases (ERN BOND) and the European Reference Network on Rare Endocrine Conditions (Endo-ERN) to support the needs of healthcare providers, patients and researchers by providing high-quality registries. The Core Registry collects a set of Core Data Elements as well as longitudinal patient and clinician-reported outcomes in condition-specific modules.
Aim: To describe the patient population and data entered in the EuRR-Bone Core Registry between April 2020 and December 2022.
Methods: Core Registry clinical contributors are invited to register new and existing cases of rare bone and mineral conditions mapped according to the Orphanet classification. A set of core data elements collects demographic and diagnosis data. Furthermore, condition-specific modules are available for clinicians and Patient-Reported Outcome Measures (PROMs) are available for patients to complete through the ‘patient platform’.
Results: Thirteen centres from 10 countries, of which 9 are based in Europe, have registered cases. Of 13 centres, 7 are joint ERN BOND and Endo-ERN members and 1 is Endo-ERN member only. To date, a total of 401 cases have been added to the Core Registry, 225 (56%) and 176 (44%) in the bone dysplasia and the calcium and phosphate condition group, respectively. Of 401 cases, 72 (18%) were within the age range 0-9 years, 48 (12%) 10-17 years and 280 (70%) over 18 years. The median age was 33 years (range 0-86). Of 401 cases, 336 (91%) were under active follow-up. Sixty-two (15%) had expressed interest in having access to the patient platform and of these 19 (31%) had an active account. Ninety-five PROMs outcomes had been completed, of which 55 were EQ-5D, 25 were WHO ICF (International Classification of Function and Disability) and 15 were BPI-SF (Brief Pain Inventory Short Form. Of 95, 90 (95%) were completed by clinicians and 5 by patients.
Conclusion: The Core Registry has proved its ability to collect clinician and patient-reported outcomes in patients of all ages. This makes the platform a suitable option for studying the natural history and long-term clinical outcomes of rare bone and mineral conditions. In order to increase participation, we should address the challenges healthcare professionals and patients might face to participate.
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