ESPE2023 Poster Category 1 Bone, Growth Plate and Mineral Metabolism (46 abstracts)
EuRR-Bone: Collecting Condition-Specific Outcomes on Fibrous Dysplasia/ McCune-Albright Syndrome
Ana Luisa Priego Zurita 1 , Oana O Bulaicon 1 , Nerea Arrieta 2 , Jillian Bryce 3 , Magdalena Caballero Campos 2,4 , Roland Chapurlat 5 , Gaby Doxiadis 6 , M Kassim Javaid 7 , Diana Ovejero Crespo 8 , Tess M de Rooij 1 , Lothar Seefried 9 , Daniele Tessaris 10 , S Faisal Ahmed 1,3,11 & Natasha M Appelman-Dijkstra 1
1Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands. 2Fibrous Dysplasia Spanish Association, Bergara, Spain. 3University of Glasgow, Office for Rare Conditions, Glasgow, United Kingdom. 4Department of Mathematics, University of Cordoba, Cordoba, Spain. 5INSERM UMR 1033, Université Claude Bernard-Lyon 1, Service de Rhumatologie, Chu Edouard-Herriot, Lyon, France. 6Dutch FD/MAS Foundation, Nijkerk, Netherlands. 7Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, United Kingdom. 8IMIM (Hospital del Mar Research Institute), Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), Barcelona, Spain. 9Orthopedic Department, University of Würzburg, Würzburg, Germany. 10Pediatric Endocrinology, Regina Margherita Children Hospital-Aou Città della Salute e della Scienza, Torino, Italy. 11University 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) were created in collaboration with the European Reference Network on Rare Bone Conditions (ERN-BOND). EuRR-Bone collects data using 2 platforms: e-REC, a tool that captures the occurrence of bone and mineral conditions, and the Core Registry which collects a set of Core Data Elements as well as longitudinal patient and clinician reported outcomes in condition specific modules. Until December 2022, 188 cases of fibrous dysplasia/McCune Albright syndrome were registered in e-REC.
Methods: The study group on Fibrous Dysplasia McCune-Albright Syndrome(FD/MAS) developed a disease-specific dataset including demographic, diagnostic and clinical outcomes including Patient-Reported Outcome Measures (PROMs). Built within the Core Registry platform, this module is open for contributors (ERN and non-ERN members) to register new and existing cases of FD/MAS since April 2022.
Results: Until March 2023, 92 cases of FD/MAS had been registered in the Core Registry by 4 centres from 4 European countries. The median age of patients in the Core Registry was 39 years (range 1-76) with 8 patients (8.6%) in the range of 0-17 years and 84 (91.3%) ≥18 years. The median age at condition onset and diagnosis were 0 (range 0-56) and 27 (range 0-67) years respectively. The median time to diagnosis in months was 242 (range 0-707). Of 92 cases, 24 (26%) had polyostotic FD, 40 (44%) had monostotic FD, 8 (9%) had an unespecified form of FD, 16 (17%) had MAS and 4 (4%) had Mazabraud syndrome. Disease specific outcomes have been completed for 11/92 (12%) patients. FD related musculoskeletal outcomes were reported as follows: pain at FD site in 7 (64%) patients, fractures in 6 (54%) patients, limb deformities in 3 (27%) and scoliosis in 6 (36%). Past and current bone related medication such as oral and intravenous bisphosphonates and denosumab were used in 6 (55%) and 4 (36%) patients respectively, with pain being the indication in all cases.
Conclusion: The use of a Core Data set in combination with a disease-specific dataset developed by healthcare providers and patient representatives, can provide insight on the natural history and clinical outcomes of rare diseases such as FD/MAS. To date, patients and data have been entered by a small number of centres. Healthcare professionals and patients should be encouraged to participate while addressing the challenges this might represent.
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