Understanding more about mutations in the Androgen Receptor and developing a new potential treatment for Kennedy's disease.

A photo of Carlo Rinaldi

Principal Investigator: Dr Carlo Rinaldi

Lead Institution: University of Oxford

MND Association Funding: £187,500

Funding dates: March 2024 - February 2026

About the project

Kennedy’s disease is an inherited form of MND which is caused by a mutation in the gene which holds the instructions to make a protein called the Androgen Receptor. It is thought that blocking the activity of this protein could provide an effective treatment for the disease. However, previous research into compounds to silence the receptor have had disappointing results in clinical trials. This project aims to develop a new potential treatment of Kennedy’s disease called AR45 which is a protein that acts as a switch for the Androgen receptor. It has been found that AR45 is able to improve the disease in mice but exactly how it does this remains unclear. The project will focus on understanding how the mutation in the Androgen Receptor gene alters the activity of the protein in Kennedy’s disease. It will also look into how the potential treatment works within the body and how it can alter the activity of the Androgen Receptor. 

What could this mean for MND research?

This project will help to increase current understanding of how mutations in the gene for the Androgen Receptor contribute to the development of Kennedy’s disease. This could shed more light on how to design new possible treatments to correct the effects of this mutation. It will also investigate how AR45 works within the body and may lead to further lab-testing of this compound to determine whether it may be a promising treatment for people with Kennedy’s disease in the future.

Project code: 2340-791