Current and emerging therapies for Achondroplasia: The dawn of precision medicine

• DOI: 10.1016/j.bmc.2023.117275
• Publication Date: 2023-04-20T21:00:55Z
• Authors: Etienne Dardenne; Noboru Ishiyama; Tai-An Lin; Matthew C Lucas
• Keywords: Achondroplasia; Dwarfism

Achondroplasia is a rare disease affecting bone growth and is caused by a missense mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. In the past few years, there were multiple experimental drugs entering into clinical trials for treating achondroplasia including vosoritide, the first precision medicine approved for this indication. This perspective presents the mechanism of action, benefit, and potential mechanistic limitation of the drugs currently being evaluated in clinical trials for achondroplasia. This article also discusses the potential impact of those drugs not only in increasing the growth of individuals living with achondroplasia but also in improving their quality of life.