• The DMD INSPIRE Major Grant of $945,654 (approx. £780,000) will support the University of Minnesota’s pioneering work on regenerating muscle in DMD patients with stem cells

Stem cells are a potentially exciting approach to generate new healthy muscle in patients with Duchenne Muscular Dystrophy (DMD).

The stem cells we are looking at are called human induced pluripotent stem cells (iPSCs). These cells replace the diseased muscle tissue with healthy muscle and with stem cells that can create healthy myofibers (mature muscle cells) which are able to regenerate.

The aim of this project is to produce and test these stem cells to get the preclinical data required to progress to a clinical trial. The team will use our grant to manufacture the stem cells and test a number of things including what dosing should be used and the safety and toxicity.

If the project is successful, the group will commence planning for a Phase I Clinical Trial to start testing this approach on patients.

The team at the University of Minnesota are world leaders in cell therapy, so we are very excited to be funding their work. This group of expert scientists and clinicians have been working hard for the last 3 years to take this potential treatment from early stage research to the exciting reality of manufacturing these cells.

Dr. Rita Perlingeiro, Professor at the Department of Medicine at the University of Minnesota, said:

“I am delighted to receive funding from Duchenne UK as we enter the important preclinical phase of our project. This partnership is critical to moving our cell therapeutic approach forward to enable clinical trials” 

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

“Duchenne UK is absolutely committed to accelerating potentially exciting therapies into clinical trial so that they can be tested on patients. Stem cells offer the potential hope of creating new healthy muscle in DMD patients, and we are pleased to be supporting this innovative and ground-breaking project.”

We would like to thank our partner charities and family funds for supporting this project: Joining Jack, Alex's Wish, Jacobi's Wish, William's Fund, Project GO, Cure4George, Jack's Mission, Action for Arvin, The Smedley Family, Following Felix.

Q&A with Dr. Rita Perlingeiro, Professor at the Department of Medicine at the University of Minnesota,

What are stem cells?

Stem cells are cells that can develop in to many different cell types in the body. In the case of pluripotent stem cells, they are able to divide and replenish all cell types of the body including muscle fibres. When exposed to specific culture conditions, it is possible to generate very large numbers of tissue specific skeletal muscle stem/progenitor cells.

What do we hope stem cells will do?

As we have observed in extensive proof-of-concept studies using mouse models of DMD, we hope transplantation of pluripotent stem cell-derived skeletal muscle stem/progenitor cells into DMD patients will reduce the muscle degeneration caused by lack of dystrophin. We expect that injected stem cells will i) produce functional muscle and ii) populate this new muscle with muscle stem cells, and therefore contribute to long-term regeneration.

Why is cell-based therapy important for treating DMD?

Skeletal muscle is a highly regenerative tissue. In DMD, muscle stem cells work hard to replace damaged tissue with new muscle fibers, but these also lack dystrophin, leading to successive cycles of degeneration/regeneration. A successful cell-based therapy will be able to break this cycle and counteract DMD pathology, as transplanted cells will give rise to dystrophin-expressing functional muscle fibers.

What are the potential risks or side effects of this approach?

Potential side effects: No clinically significant adverse effects are expected. Mild effects (e.g. inflammation, hematoma) at the site of injection. This approach will require the use of immunosuppression. Therefore, there is potential for side effects associated with this type of medication.

Potential risks: Undifferentiated cells are cells that are not specialized to perform a specified function in the body.  Cell therapies require differentiation of undifferentiated cells into specialized cell types, such as our target cell population, skeletal muscle stem/progenitor cells.  If differentiation fails or some other error leads to accidental injection of large numbers of undifferentiated pluripotent stem cells, a teratoma may result. This risk applies to any cell therapy based on pluripotent stem cells and is extremely low in the study described here as quality control procedures rigorously evaluate cells prior to transplantation.  

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

Filling of an Investigational New Drug (IND) with the FDA, and initiating of a First-in-Human Phase 1 Safety/Dose Escalation Trial of pluripotent stem cell-derived skeletal myogenic progenitors for DMD.

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


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 and interview requests:

Visit www.duchenneuk.org

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