21st December 2020

Duchenne UK works with a wide variety of researchers, from those who are at the top of their field, and those who are just starting out. There can often be several researchers working on any given project, from post-doctoral students to professors, with each contributing to the process and development of the project.

Hannah Paish, part of the Newcastle Fibrosis Research Group (NFRG) at Newcastle University, has been working on a new human test system to understand fibrosis in the heart, which we began funding in 2018. The aim of this project was to investigate precision-cut human cardiac tissue slices. These are thin slices of heart muscle, collected after surgeries, and can be used as a model to test new medicines. The team were able to demonstrate inflammation and fibrosis occurring in the precision cut slices, and show that they can reduce this fibrosis and inflammation using approved medications. Our knowledge of DMD’s impact on the heart is limited but this model will provide us with greater understanding of fibrosis in the heart, as well as how biomarkers, to measure disease progression, and novel treatments, may be identified. This is the focus of the follow-up study, announced in December 2019. The project is also complementary to the carrier study we announced in 2020. 

Fibrosis research in DMD is most commonly focused on skeletal muscle. As DMD progresses and fibrosis of the heart develops, cardiomyopathy, conduction-defects (heart rhythm disturbance) and tachyarrhythmias (faster heart rate) may develop, which can be dangerous for patients.

At the moment, there are no anti-fibrotic therapies approved for the treatment of DMD. There is an urgent unmet need to better understand cardiac fibrosis in DMD, to enable the development of new therapeutic targets and compounds. The precision cut slices more closely mirror the effect of anti-fibrotic therapies on the heart than in animal models, and have the potential to identify compounds more likely to be effective in early clinical trials.

Hannah has been instrumental in the project, collecting, processing and culturing samples, before measuring changes in the tissue slices to investigate the processes of fibrosis and inflammation under the supervision of Dr Lee Borthwick and Professor Derek Mann,.

Last month (November 2020), she presented her work on the project to the North-East Postgraduate Conference. This is the largest student led biomedical conference in the UK, with students from all over the UK presenting their work. Other presentations covered a broad range of disciplines from cancer research to nutrition. Hannah received joint 2^nd place for her presentation of the work funded by Duchenne UK.

Hannah said:

In collaboration with Duchenne UK we are developing a model which could have significant translational potential for both discovering promising disease targets and the testing of novel therapeutics. I am very proud to be a part of such exciting research and grateful for the opportunity to exhibit the important work being done.

David Bull, Duchenne UK's Director of Research, said:

The work that Hannah has been doing with Lee and Derek developing precision-cut slices of heart, has the potential to become a hugely valuable test-bed for the identification of new or repurposed drugs for the treatment of fibrosis in the heart. Duchenne UK has been supporting this approach for some time and Hannah’s skilled and focused development work has helped in push this forward. Well done, Hannah!

Duchenne UK would like to congratulate Hannah on her achievement and thank her for her dedication and hard work on this project.

NOTES FOR EDITORS

What is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy (DMD) is the most common fatal genetic disease diagnosed in childhood. Children born with DMD cannot produce the protein dystrophin which is vital for muscle strength and function. Muscle weakness starts in early childhood. Many use a wheelchair by around the age of 12. As deterioration continues it leads to paralysis and early death, often in their 20s. It almost exclusively affects boys. There is no treatment or cure. In the UK there are around 2,500 boys affected and around 300, 000 worldwide. It is classified as a rare disease.

Who are Duchenne UK?

Duchenne UK has one clear aim – to end Duchenne, a devastating muscle-wasting disease. As the leading Duchenne charity in the UK, we connect the best researchers with industry, the NHS and families to challenge every stage of drug development to make the incurable, curable. Together, we will find treatments and cures for this generation of patients with Duchenne.

Our president is HRH The Duchess of Cornwall. Our patrons include the broadcasters Krishnan Guru-Murthy and Mary Nightingale, and the sports stars Owen Farrell, Kris Radlinski and Andy Farrell. 

We need your help, because we need to keep funding promising new research.

How to donate?

Duchenne UK is entirely reliant on donations to fund research for treatments and a cure to DMD. This can be done via:

• Direct Debit – Duchenne Direct
• Individual Donation – Donate
• If you are a family or friend affected by DMD you can set up your own fund with Duchenne UK – Family and Friend Funds
• Take part in one of our fundraising events – Events
• Text DUCHENNE to 70085 to donate £5. This costs £5 plus a std rate msg.

For more information visit www.duchenneuk.org