The management of skeletal dysplasia (inherited disorders of bone and cartilage) has been predominantly, like many other genetic conditions, symptomatic and reactive. This status quo is now being challenged by the promise of precision therapies, underpinned by advances in the understanding of disease pathogenesis, that can potentially alter the natural history of these disorders, and offer patients and families new options for better health.
To assess the safety and clinical efficacy of these new disruptive products, we have been undertaking clinical trials in children with various forms of skeletal dysplasia. This talk will summarise the current state of play with these phase II and III drug trials, and will focus on potential new therapies for children with achondroplasia
(including c-natriuretic peptide, tyrosine kinase inhibitors, soluble FGFR3), and Schmid metaphyseal dysplasia (repurposing carbamazepine as exemplars of this brave new paradigm.