Advances in the treatment of achondroplasia

Abstract: Achondroplasia is a condition resulting from a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, representing the predominant etiology of short height in humans. Physical phenotypic characteristics encompass small stature, macrocephaly with frontal bossing, midface hypoplasia, rhizomelic shortening of the limbs, brachydactyly, and genu varum. Untreated cases result in several orthopedic and neurological issues that ultimately lead to impairment. Treatment techniques for achondroplasia can be categorized into surgical and pharmaceutical therapy. Enhanced comprehension of the etiology of this disease has prompted efforts to create causative pharmaceutical treatments. This review introduces innovative possible pharmacological therapies for achondroplasia including vosoritide, which received approval for patient usage in 2021, as well as TransCON CNP, meclozine, infigratinib, and recifercept, all now undergoing clinical trials. Aim of the study: The main aim of this study is to elucidate the most recent treatment methodologies for patients with achondroplasia. This article presents groundbreaking advancements and new therapies designed to enhance the quality of life for patients with achondroplasia, while also raising awareness of available treatment choices and fostering optimism for future developments in this domain. In 2021, vosoritide (Voxzogo), a C-type natriuretic peptide (CNP) analogue, was approved by the US FDA and EMA for use in children with achondroplasia. As of January 2025, vosoritide therapy has been available in Poland for patients with achondroplasia under the drug program, which is a response to the unmet therapeutic need in patients with achondroplasia. Materials and methods: A review of the literature available in the PubMed and Google Scholar databases was performed, using the key words: „achondroplasia", „FGFR3”, „skeletal dysplasia", „vosoritide”, „short stature”.