Endocrine Abstracts

We are living through an exciting period during which new medical treatments are emerging for a range of rare bone diseases. These include monoclonal antibodies, small molecules and repurposed as well as truly innovative drugs. Whilst underlying the use of them all is an increased understanding of some aspect of bone biology, presently each sits at a different point on the pathway from bench to bedside. Asfotase alfa (bone-targeted alkaline phosphatase) is licensed for the treatment of paediatric-onset hypophosphatasia and has transformed outcomes for perinatal disease in particular. In 2017 NICE determined that it should be available in England subject to a formal managed access agreement. Burosumab (monoclonal antibody against FGF23) is licensed for the treatment of X-linked hypophosphataemic rickets during growth with a determination by NICE pending at the time of writing this abstract. Various clinical trials are currently underway for new medical approaches to the treatment of other rare bone diseases such as osteogenesis imperfecta, achondroplasia, fibrodysplasia ossificans progressiva and fibrous dysplasia. These new treatments for rare disease have potential implications for service delivery, configuration and funding. The multidisciplinary nature of bone disease management presents particular challenges. One solution has been the designation of Highly Specialised Services in England for the management of osteogenesis imperfecta in children and of hypophosphatasia in adults and children. The range of emergent treatments and corresponding scope of rare bone diseases may ultimately require a broader framework of service delivery encompassing paediatric and adult centres with specialist expertise.