Registration of a monoclonal antibody treatment for X-linked hypophosphataemia marks the first advance in therapy for the rare genetic condition in 40 years, a paediatric endocrinologist says.

The TGA has approved the biologic burosumab (Crysvita, Kyowa Kirin Australia) for adults and children aged over one year living with the disease, which causes rickets and osteomalacia.

For the first time since the 1980s there’s an agent to replace the mainstay of treatment for children which includes taking oral phosphate multiple times daily – an onerous regimen as the taste is highly unpleasant, says paediatric endocrinologist, Dr Peter Simm.

Dr Simm, from the Royal Children’s Hospital in Melbourne, says that as current therapies don’t treat the cause of the disease, many children continue to have bone pain, cannot take part in sport, require orthopaedic procedures and fail to achieve their full stature.