30th January 2020

Promising drugs for Duchenne Muscular Dystrophy (DMD) which are tested on animals do not always respond the same way in humans.

In December last year the community was devastated by news that another clinical trial had been terminated. Wave Life Sciences announced that their stereopure exon skipping drug suvodirsen, had failed to produce dystrophin. 

The news was a big blow, not least because early data in animals had shown that the drug was effectively producing dystrophin. 

Early stage tests are done on mice with DMD and then transferred to trials in people – but there is uncertainty whether a drug might behave the same in the human body. We want to stop this. That's why we're announcing further investment in a project which has the potential to help us understand, at a much earlier stage of research, whether a medicine will help treat DMD patients.

In 2018 Duchenne UK began collaborating with a team based at Newcastle University which is using human muscle tissue in the laboratory which mimics the biology of DMD. This can then be used to test new drugs.  

Working with cutting edge technology, the Newcastle Fibrosis Research Group (NFRG) in the University Biosciences Institute, created something called ‘precision cut slices’ (PCS), which involves the maintenance of pieces of human liver and kidney tissue.

They then successfully adapted this technology for use with slices of human heart tissue, which have been treated to have fibrosis. This is a hardening of the heart muscle -- a symptom of DMD which leads to cardiac failure, a major cause of death from the condition. 

This muscle has been used to test existing drugs to see if they can reduce the fibrosis. Prof Mann and Dr Borthwick who co-lead the team have so far identified one approved medicine that could help reduce symptoms of heart disease in DMD. 

As part of Duchenne UK's ongoing commitment to funding ground-breaking new research we are delighted to announced that we are contributing a further grant of £163, 637 to allow Professor Mann and Dr Borthwick to continue their work.

In the past 12 months Duchenne UK has spent a total of £14 million on research. The charity is dedicated to finding treatments for this heart-breaking disease and continues to fight for a better future for people diagnosed with the condition. 

Emily Crossley & Alex Johnson, Duchenne UK cofounders, said:

We are committed to helping accelerate the pace of drug development in DMD. Finding ways to more accurately predict whether medicines might work in humans is a key stage in that process, which is why we are pleased to continue our partnership with the NFRG working on their cutting edge tech to try and better identify medicines that might help with the heart in DMD.

Professor Derek Mann, Professor of Hepatology and Dean of Research in the Faculty of Medical Sciences at Newcastle University said: 

The heart PCS technology we have developed with support from Duchenne UK has enormous potential to identify and develop new drugs because of its use of human heart rather than animal tissue, the latter often being limited in its ability to model human disease. As a team of researchers who are dedicated to delivering research solutions for patients suffering from degenerative diseases, we are absolutely delighted and indeed humbled to be partnering with Duchenne UK to help identify new and better treatments for DMD patients.

We would like to thank our partner charity Alex’s Wish for supporting this project. We would also like to thank our family funds who have supported this project: Jack’s Mission, Jack’s Aim, Project GO and Team Felix.

 


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 is a lean, ambitious and highly focused charity with a clear vision: to fund and accelerate treatments and a cure for Duchenne muscular dystrophy.

We are investing millions of pounds in research right now to bring treatments and a cure to help this generation. Duchenne UK is the largest funder of DMD research in the UK. We are also committed to accelerating the pace of research. 90p in every £1 raised is committed to research.

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