Clinical Trials in which main indication is Achondroplasia

Abstract

Achondroplasia is a rare disease which is caused as a result of mutation in the FGFR3 gene. That mutation leads to impaired growth of the bones. This disease is the most common form of dwarfism known by now. There have been organized and conducted clinical trials focused on target therapies, such as Vosoritide and other FGFR3 Inhibitors, the aim of the organized clinical trials is to address and find the genetic defect that is causing the defect. By this time only 41 Clinical trials are reported in which the main disease under study is Achondroplasia, the earliest is organized in the 1996 and the latest which is ongoing at this period of time is organized in December 2024. In this article there will be a review of the findings, methodology and implications of clinical trials that are organized in which the disease under study is Achondroplasia, also the safety, efficacy, and the potential for improvement of the quality of life of the individuals with this disease will be implicated.

Keywords: Achondroplasia, Clinical Trials, Rare Disease FGFR3 gene, Gene Mutation