• The project is in collaboration with Duke University, University of California Berkeley and Solid Biosciences
  • The aim is to develop minimally-invasive biomarkers to estimate lean muscle mass and skeletal muscle protein synthesis rates, using samples from blood and urine

Duchenne UK is pleased to be supporting this collaboration to look at developing biomarkers that may have the ability to help measure muscle health through blood and urine.

The importance of accurate measurement of disease progression in Duchenne muscular dystrophy (DMD) is clear, as is the need for effective evaluation of potential treatments. However, current measurements to monitor skeletal muscle mass are taken through imaging such as whole body DEXA scans (dual energy X-ray absorptiometry) or magnetic resonance imaging (MRI). These approaches are not only indirect measures of muscle, but are also expensive, time consuming and can be unpleasant for patients. In addition, markers of how well muscle is synthesizing new proteins have not previously been available from measurements on blood or urine, but have required biopsies of muscle.

This is one of the key factors DMD patients and their parents/guardians have in mind when considering a new trial. If a reliable, non-invasive, simple test could be developed which accurately predicted muscle mass and muscle protein synthesis it would significantly improve the experience of patients taking part in clinical trials.

Solid Biosciences has established a collaboration with a team of physicians and researchers to non-invasively measure skeletal muscle mass in patients with DMD as well as to sample rates of muscle protein synthesis, from blood and urine as a marker of muscle health.

This project will investigate the potential of measuring muscle protein synthesis by drinking “heavy water” and lean muscle mass by taking a pill of deuterated creatine and collecting minimally invasive blood and urine samples. The deuterated-creatine/creatine ratio is a simple, non-invasive biomarker of muscle mass while heavy water allows the rate of muscle protein synthesis to be measured from proteins in blood that were synthesized in muscle. This method has been validated in other patient populations, including elderly patients, infants and children, but for the first time it is being tested in patients with DMD. The aim of this project is to determine whether this method could be used as a non-invasive alternative to assess muscle health in children affected by muscular dystrophies.

If a simple, non-invasive biomarker for muscle health status in DMD patients can be developed, it would hugely simplify the measurement of effectiveness of current and potential new therapies for DMD. The ability to measure changes in lean muscle mass and muscle protein synthesis using simple biomarkers would also hugely improve diagnosis, prognosis, and monitoring.

Emily Crossley & Alex Johnson, Co-founders of Duchenne UK said: “The development and optimisation of these minimally invasive biomarkers offers the potential to revolutionise the monitoring of muscle mass and condition which may progress drug development and facilitate evaluations during clinical trials. We are very pleased to be supporting this project.”

Valeria Ricotti, M.D., Director of Translational Research and Development at Solid Biosciences said: “Discovering and developing tools and technologies that have the potential to improve the clinical development process for DMD are important elements of our mission.  We hope that this pilot work will help us get closer to this goal and improve the experience of patients and young men taking part in clinical trials.”

We would like to thank our partner charities, Joining Jack, Alex’s Wish and family funds Help Harry, Jack’s Mission and Team Felix for supporting this project.

 - ENDS -

 

NOTES FOR EDITORS

What is Duchenne Muscular Dystrophy?

Duchenne Muscular Dystrophy 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 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. The charity has been formed by the coming together of Joining Jack and Duchenne Children's Trust, the two biggest funders of research in the UK in the last three years. Its president is HRH The Duchess of Cornwall. Its patrons include the broadcasters Krishnan Guru-Murthy and Mary Nightingale, and the sports stars Owen Farrell, Kris Radlinski and Andy Farrell. 

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 DUCH10 £10 to 70070

For more information and interview requests: 

Visit www.duchenneuk.org 

Molly Hunt – Communications Manager, Duchenne UK 

E: [email protected]