DMD research

Tackling fibrosis and muscle regeneration


  • Duchenne UK grants £235,200 to AGADA Biosciences’ to test the impact of two already approved drugs on protecting muscle in DMD

The two drugs being investigated are Tofacitinib, which is used as a treatment for Rheumatoid Arthritis, and Ruxolitinib, which is used in myelofibrosis (a relatively rare bone marrow cancer).

The innovative team at AGADA will use our DMD INSPIRE Major grant funding to see if these two drugs can reduce inflammation and fibrosis, two major problems for DMD patients, and improve muscle regeneration, in the same way as they do for other the diseases they are approved treatments for.

The drugs are understood to work by blocking the Janus Kinases (JAK) pathways which communicate information to cells, and contribute to the production of collagens, which cause the build-up of fibrosis in the muscles.

The drugs we are testing are already approved as safe for use in humans, so we hope this will dramatically reduce the time it can take to get the medicines into the clinic and as approved treatments for DMD patients. Repurposing medicines is an important part of our strategy to get treatments to this generation of patients with DMD.

Emily & Alex, co-founders of Duchenne UK said:

“The repurposing of existing medicines as potential treatments for DMD, has the potential to bring new treatments to patients in a shorter time frame than traditional drug development. Repurposing is a key part of our research strategy, and we are delighted to be funding Agada’s project.”

Dr. Kitipong Uaesoontrachoon, Principal Director of Research, AGADA said

“AGADA is delighted to leverage our experience in pre-clinical models of DMD to study potential repurposing of existing marketed drugs for DMD.”

Dr. Kanneboyina Nagaraju, President and Co-founder of AGADA, said:

“Carrying out robust pre-clinical efficacy studies in the mdx mouse can provide key data to decide if DMD clinical trials are warranted,”

We would like to thank our partner charities and family funds for supporting this project: Joining Jack, Archie's March, Muscles for Mitchell, Cure4George and Jacobi's wish.

Q&A with Dr. Kitipong Uaesoontrachoon, Principal Director of Research, AGADA Bioscience Inc:

What is fibrosis and why is it a problem in DMD?

Fibrosis is the scar tissue that is deposited between muscle fibres in children with DMD which increases with age. Fibrosis makes the muscle hard and unable to bend, which both hinders the muscle from working effectively, and prevents the forming of new muscle fibres. This results in muscle weakness.

What does the abbreviation ‘JAK’ stand for and what is a JAK inhibitor?

JAK stands for Janus Kinase. There are three JAKs, JAK1, 2 and 3. They have been shown to be involved in regulating the function of several cell types including immune cells and muscle cells. Inhibition of JAK pathways alters inflammation, fibrosis and muscle regeneration.

How could these two medicines, Tofacitinib and Ruxolitinib, help?

Tofacitinib effectively blocks JAK3, whereas Ruxolitinib effectively blocks JAK1 and 2. Blocking these JAKs is believed to reduce inflammation, fibrosis and improve regeneration in skeletal muscle which will in turn result in improved muscle function. The relative contribution of JAKs to regulating muscle inflammation, fibrosis and regeneration is unknown, therefore we are testing these compounds that block these 3 kinases in dystrophic mice.

If this project is successful, what will the next steps be?

If this project is successful, it will immediately move to a phase II clinical trial in children with DMD. This is possible because the pharmacology and toxicology of these compounds have been well-established and their effectiveness has been demonstrated in other diseases, especially in children.

If you have any further questions, do email [email protected]

This project is part of our DMD INSPIRE Major Grant Call. Find out more here: Duchenne UK invests £1,25 million into new research of treatments for DMD



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 and interview requests:

Visit www.duchenneuk.org

Molly Hunt – Head of Communications, Duchenne UK E: [email protected]

Published on 8 July 2019

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