DMD research

Research Project Update: Biomarkers

October 2019

Introduction In September 2018, Duchenne UK announced a grant of $162,600 to Duke University, in collaboration with Solid Biosciences, to support the development of a novel, minimally invasive biomarker to estimate lean muscle mass. Taking part in a clinical trial can be hugely demanding for families. Part of the reason for this can be because of the demands placed on boys. In some trials they have to undergo MRI scans (Magnetic Resonance Imaging) or muscle biopsies, which involves removing pieces of muscle under general anaesthetic. These procedures need to be done to understand what impact a drug may be having on the body. However our co-founder Alex Johnson co-authored a paper published last month looking at the impact of muscle biopsies in boys. In it, she found that patients generally found biopsies distressing due to the pain and scarring. Click here to read her paper. Duchenne UK wanted to help scientists examine less intrusive ways of looking at what’s going on in the body. This is why in 2018, we, along with solid biosciences, granted $162,600 to Duke University and University of California to develop a new way of measuring the impact a treatment might be having on muscle. The scientists are developing what are called biomarkers- a way to examine the biological processes and the body’s response to medicines. Biomarkers involve testing things like blood and urine rather than taking muscle, and so they potentially offer a much less intrusive way of measuring what is going on in muscle tissue.   Biomarkers Project Update: WHAT HAPPENED? Researchers took 10 boys with DMD and 9 healthy boys of a similar age and gave them an oral dose of a compound containing D3creatine. They gathered samples of saliva and urine. HOW DID THE STUDY WORK? The D3creatine mixes evenly with all the body’s natural creatine – 98% of which is in muscle. The body metabolises creatine and creates creatinine, which is excreted in urine. The more healthy muscle a boy has, the more creatinine will be seen in his urine. By looking at both creatine and D3-creatinine in urine, scientists can get a good measure of the total amount of healthy muscle. For this determination, only a single urine sample is needed. WHAT WERE THE RESULTS? This new urine test method successfully showed what is known to be true – that healthy muscle mass in boys with DMD is much lower than that of healthy boys. In the three oldest subjects with DMD, muscle mass comprised less than 5% of body weight. This has been a very positive study. Researchers believe they may have the beginnings of a method of measuring total muscle mass in boys without having to use painful biopsies or expensive and uncomfortable MRI. One other interesting result noted by the researchers was that in DMD boys, these biomarker measurements of muscle mass mirrored the “rise time” – the longer it took for a boy to get up was related to the biomarkers showing reduced muscle mass. This is encouraging evidence of the potential value of this technique. WHAT NEXT? Duchenne UK and Solid Biosciences are now working with scientists at Duke and UCLA to see what next steps need to be done to increase our understanding of this work and to create an effective urine test that could be used in clinical trials. Researchers plan to continue their studies with more volunteers so they can further validate the data, with the purpose of creating an effective urine test. They would also like to see if, in a bigger sample size, there are further links between the biomarkers and the physical activity of boys. This D3-creatine dilution method to measure muscle mass may be a non-invasive method to determine disease progression and therapeutic efficacy. We will update you on the progress of this important project. We would like to thank our partner charities and funds for supporting this project: Joining Jack, Help Harry, Jack’s Mission and Team Felix

Published on 10 October 2019

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About Duchenne UK

Duchenne Muscular Dystrophy (DMD) is a devastating muscle-wasting disease. It is the most common and severe form of Muscular Dystrophy. Diagnosed in childhood, it mainly affects boys. There is currently no cure. Started by families affected by the disease, Duchenne UK has one clear aim – to end Duchenne.

Duchenne UK are funding research that’s focused on getting treatments to those affected now – as well as pushing for an effective treatment in the future.

Duchenne UK connects leading researchers with industry, the NHS and patients to challenge every stage of drug development, from research to clinical trials to drug approval. They connect families with each other to create a network of mutual support and to pool resources, knowledge and experience.

How to donate

COVID-19 has caused a funding crisis in medical research. But we cannot, and will not, let it slow us down in our mission to find new and effective treatments for DMD. Because this generation of boys cannot wait. Donate now, and together we will end Duchenne

Duchenne UK is entirely reliant on donations. 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.