Background: Rare metabolic bone diseases (RMBD) are at the crossways of Endocrinology, Nephrology, Orthopaedic surgery and Rheumatology. Most of RMBD lead to short stature, bone pain, tooth anomalies, leg deformities, bone fragility and disability of variable importance. The organization of care varies immensely amongst European countries. Several European networks dedicated to RMBD already exist, supported by societies such as ESPE, ECTS or research grants, albeit their focus is primarily on research.
Objective: The announcement of the future organization of European Reference Networks (ERNs) for rare diseases by the European Commission prompted us to conduct a survey in order to identify and map the field of expertise, the organization of care and the current activities around RMBD. A google questionnaire based on the future call for ERNs was sent to the existing networks; the information about the survey was conveyed through the ESPE, ECTS and ESE societies.
Results: 33 centres from 12 countries responded. Altogether, the expert centres follow more than 4500 patients with RMBD including 1003 with an abnormal regulation of Ca++ and/or Pi, 2121 with a defect of the bone mineralization and 718 with a skeletal dysplasia. Paediatric patients are overrepresented (3141 vs 1025). The centres are fully equipped to image the bone, measure the circulating biomarkers and perform the molecular diagnosis of RMBD. However, multidisciplinary care is uneven amongst the centres. Training and research activities are fully implemented mostly through collaborations. Improvement is awaited for database interoperability and implementation, as well as for evaluation of clinical/training/research practices.
Conclusion: Our survey pointed the needs to i) improve the visibility of expert centres towards patients and families, caregivers, and European health authorities; ii) guide the transition from child care to adult care; iii) harmonize care, and enable clinical trials; iv) share the expertise and disseminate the knowledge of RMBD through e-tools. Our survey shows that European networking is a major instrument to improve the care of patients affected with RMBD.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology