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Duchenne muscular dystrophy: searching for a new drug treatment

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Duchenne muscular dystrophy (DMD) is an inherited disease that causes muscle weakness and wasting. Usually affecting boys, symptoms are often first noticed in early childhood and gradually worsen over time. Sadly, there is no cure – and although life expectancy is increasing, most of those affected will develop heart and breathing problems that lead to life-threatening complications. Professor Angela Russell of the University of Oxford is carrying out laboratory research to identify a new drug treatment that can slow disease progression. She hopes this work will ultimately lead to an effective new treatment that can help improve the lives of all children with DMD.

This project is jointly funded by Action Medical Research and LifeArc.

How are children’s lives affected now?

In the UK, about 100 boys are born with Duchenne muscular dystrophy (DMD) each year.1 A child born with DMD has a faulty gene which means they don’t make enough – or any – of the protein dystrophin, which protects muscles. Although some treatments are available, they don’t benefit all affected children.  

“DMD is usually diagnosed between the ages of two and five years when a child may experience difficulties with sitting, standing or walking – and learning to speak,” says Professor Russell. “Most children with DMD will need to use a wheelchair by their early teens and, although life expectancy is increasing, most don’t live beyond their forties.”

Utrophin, a protein that is found naturally in muscles in small amounts, is similar to dystrophin and has the potential to act as a substitute.

“Effective new treatments are desperately needed to improve the outlook for children with DMD,” says Professor Russell. “One promising approach is to develop drugs that can boost utrophin levels in muscle cells and slow disease progression.”

How could this research help?

“Our goal is to identify a drug compound that has the potential to become an effective new treatment for all children with DMD,” says Professor Russell.

The researchers previously investigated one drug compound designed to increase the amount of utrophin in muscle cells.  Although the treatment showed some initial promise in clinical trials, it was not effective over a long period.

“We have since looked in detail at its mode of action in the laboratory, leading us to identify several alternatives that act similarly but could be more effective,” says Professor Russell.

The team will now carry out further laboratory experiments to test and refine these compounds and identify a potential drug candidate to take forward into clinical development.

While gene therapy is showing exciting progress, it is not suitable for all children with DMD. A big advantage of utrophin replacement therapy is that it is potentially suitable for all patients, regardless of their specific genetic fault.

Professor Russell

References

  1. NHS website, Muscular Dystrophy: https://www.nhs.uk/conditions/muscular-dystrophy/ [website accessed 6th February 2021]
Project Leader Professor Angela J Russell, MChem DPhil
Location Departments of Chemistry and Pharmacology, University of Oxford
Project Team Professor Dame Kay E Davies
Other Locations Department of Physiology, Anatomy and Genetics, University of Oxford
Grant Amount £249,999
Start Date
End Date
Grant Code (GN number) GN2897

 

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