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

Etienne Dardenne; Noboru Ishiyama; Tai-An Lin; Matthew C Lucas

doi:10.1016/j.bmc.2023.117275

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

Bioorg Med Chem. 2023 May 3:87:117275. doi: 10.1016/j.bmc.2023.117275. Epub 2023 Apr 20.

Authors

Etienne Dardenne¹, Noboru Ishiyama², Tai-An Lin¹, Matthew C Lucas³

Affiliations

¹ Black Diamond Therapeutics, New York, NY, USA.
² Black Diamond Therapeutics, Toronto, ON, Canada.
³ Black Diamond Therapeutics, Cambridge, MA, USA.

PMID: 37156065
DOI: 10.1016/j.bmc.2023.117275

Abstract

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.

Keywords: Achondroplasia; FGFR3 mutations; Fibroblast growth factor 3; Skeletal dysplasia.

MeSH terms

Achondroplasia* / drug therapy
Achondroplasia* / genetics
Humans
Mutation
Precision Medicine*
Quality of Life