Oxford-Harrington Rare Disease Centre to Advance Novel Treatment for Duchenne Muscular Dystrophy

August 02, 2022

New therapy seeks to protect from rare muscle-wasting disorder

The Oxford-Harrington Rare Disease Centre (OHC) today announced its support of a novel treatment for Duchenne muscular dystrophy, a rare neuromuscular disease characterised by progressive muscle degeneration and weakness. The research project is led by Angela Russell, DPhil, who is Professor of Medicinal Chemistry at the University of Oxford and a 2021 Harrington UK Rare Disease Scholar. 

Duchenne muscular dystrophy (DMD) primarily affects boys, usually beginning around the age of four. DMD is caused by a defect in a gene that makes dystrophin, which acts like a shock absorber when muscles contract. Without dystrophin, muscles progressively become damaged and weakened. Children with DMD experience difficulty standing up, walking, and may eventually require a wheelchair. Serious life-threatening complications may ultimately develop including disease of the heart muscle and breathing difficulties. Patients with DMD typically do not live past their 30s.

Professor Russell and her team have been working on a protein called utrophin, which was found to function similarly to dystrophin in protecting the muscle. The lab has discovered new classes of molecules that increase utrophin production and has been working with Harrington’s Therapeutics Development Center since 2021 to advance the work. Her project was recently selected by the Oxford-Harrington Rare Disease Centre for further drug development and commercialisation support.

“Professor Russell’s project underscores our focus on new therapies that will prevent or reverse the debilitating effects of paediatric rare diseases,” says Professor Matthew Wood, Director of the Oxford-Harrington Rare Disease Centre. “We are pleased to provide Professor Russell with a network of resources and expertise to help advance this exciting discovery towards use in patients.” 

“Fewer than five percent of rare diseases currently have treatments, with many rare diseases disproportionately impacting children,” says Jonathan S. Stamler, MD, President, Harrington Discovery Institute. “The Oxford-Harrington Rare Disease Centre was established to accelerate treatments in order to address this immense unmet need and improve the health and outcomes of patients living with a rare disease.” 

A project is considered for support by the Oxford-Harrington Rare Disease Centre if it offers a novel treatment for a rare disease, particularly those that have a genetic basis or affect children. Additional considerations include the potential for clinical impact and ability to impact other diseases. 

Through the OHC, successful Principal Investigators may qualify for additional funding to accelerate drug development, in addition to receiving:

• Drug and business development support.
• Facilitated access to funders, contract research organisations, patient organisations, and a nucleic acid therapy facility.
• Invitation to present at the bi-annual Oxford-Harrington Rare Disease Centre Symposium and the annual Harrington Discovery Institute Scientific Symposium.

“I am thankful for the support I have received from Harrington Discovery Institute, my university and other funders, to get our work to where it is now,” says Angela Russell, DPhil. “I look forward to working with the Oxford-Harrington Rare Disease Centre to advance this drug candidate for utrophin replacement therapy towards clinical trials.”