Over 400,000 children are living with a rare disease, the majority of which are genetic in origin. The explosion of genetic technology over the last decade has allowed us to identify the underlying genetic disorder in an increasing number of these children, although approximately 50% of children with a suspected Mendelian condition remain undiagnosed. Obtaining a genetic diagnosis allows for accurate genetic counselling, disease-targeted surveillance or therapy, and increasingly advanced therapeutic trials.
Interdisciplinary care is essential to optimal management of children with rare genetic bone disorders, with the importance of psychological impact of living with a rare disease being increasingly recognised.
Over the past 12 months, Commonwealth approval has been obtained for three transformative therapies in children with genetic bone disorders – Burosumab (Crysvita©) for X-linked hypophosphataemia, Asfotase Alfa (Strensiq©) for hypophosphataemia and Vosoritide (Voxzogo©) in achondroplasia. All three of the targeted therapies are now used across Australia and have the potential to be transformative to the children who have the underlying disorder and families. New models of care are needed to deliver these therapies.
The ultimate goal is cure. For the first time, gene therapy has the potential to offer this to children with rare genetic bone disorders. We have seen this with Zolgensma in children with spinal muscular atrophy and there is promising discovery data that gene therapy may be on the horizon for children with rare genetic bone disorders.