DMD research

Duchenne UK announces a grant of £53,000 to speed up the diagnosis of cardiac fibrosis in female carriers of Duchenne muscular dystrophy


Duchenne UK is pleased to announce new funding for a project looking at the heart health of mothers who carry the DMD gene

Dr Lee Borthwick and Dr John Bourke at Newcastle University are running this project. The aim is to find quicker ways of diagnosing cardiac complications in mothers who carry the DMD gene.

Mothers of Duchenne patients often carry the DMD gene. Up to 17% of Duchenne mothers are called “manifesting” carriers, because they may have mild symptoms of Duchenne, including fatigue, mild muscle weakness and cramping. They are also at increased risk of developing cardiac and skeletal muscle weakness and dysfunction.

Currently, the advice to female carriers is to have their hearts checked every 3 to 5 years using ECG, cMRI or echo. These tests look at the build up of scar tissue, known as cardiac fibrosis, which can affect the healthy functioning of the heart. 

Duchenne UK has already funded £82,405 for an initial cardiac fibrosis study and is now providing additional funding to this work to develop blood tests for monitoring carriers.

Dr Lee Borthwick and Dr John Bourke will collect human heart tissue (from people undergoing pacemaker operations) and use this to identify which biomarkers (small molecules in the blood) would be best for use in identifying damage in the heart. These same circulating biomarkers in a blood sample could then be used in a potential future clinical trial to test possible treatments for female carriers. This study is specifically looking at molecules produced by human heart tissue during the heart scaring process (fibrosis).

This is an important preliminary set of studies that could lead on to a clinical trial in the future. If suitably sensitive biomarkers can be identified from a blood sample, this could save time to diagnosis for carriers, meaning they can get treatment much earlier, and it would also reduce the number of patients needed in any future clinical trial of novel therapies.

A female carrier, who asked to remain anonymous, told us:

As a carrier I worry about the health of my heart, and a 4 year echocardiogram doesn’t feel reassuring enough for me to stop worrying. The news that Duchenne UK is helping to not only develop a possible simple test to identify damage, but they are also looking for ways to potentially run a trial that could help female carriers is good news. 

Dr Lee Borthwick and Dr John Bourke at Newcastle University said:

We are very grateful that Duchenne UK have chosen to expand the partnership with the Newcastle Fibrosis Research Group and facilitate our efforts to identify biomarkers of heart fibrosis in the blood of mothers of Duchenne patients. This preliminary study will implement cutting-edge molecular biology techniques at Newcastle University, and with national and international collaborators, to maximise our chance of success and delivering a real life impact on patients.


We would like to thank our charity partners and family funds for contributing to this project: Alex’s Wish, Chasing Connor’s Cure, Jack’s Aim, Smile with Shiv, Following Felix, Archie’s March and Help Harry



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

Published on 29 September 2020

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