Searching for a cure, Improving lives

New Research Contracts


Repurposed Cancer Therapeutics as Treatments for DMD

Action Duchenne, Alex’s Wish, Duchenne Now and Harrison’s Fund are  co-funding a research project.  Called Repurposed Cancer Therapeutics as Treatments for DMD, the project will be led by Professor Steve Winder in the Department of Biomedical Science at the University of Sheffield.

With a total cost of £120, 935, this project hits the strategic aims of each of the funding charities by showing the potential to treat all Duchenne patients and the possibility of a fast track to the clinic.

The project will investigate the use of four drugs that are currently used to treat cancer as potential treatments for Duchenne, using mouse models. The project aims to assess:

1.    the long-term efficacy of three tyrosine kinase inhibitors in reducing the dystrophic patho-physiology in mdx mice.

2.    the long-term efficacy of a proteasome inhibitor in reducing the dystrophic patho-physiology in mdx mice.

3.    the possible synergistic effect of tyrosine inhibitors combined with proteasome inhibitors in further reducing the dystrophic patho-physiology in mdx mice.

In people living with Duchenne Muscular Dystrophy, a faulty signal in the cell acts as a switch which leads to disruption of the muscle cell surface.  This ‘faulty switch’ is part of the cause of Duchenne.  If this ‘faulty switch’ could be turned off it could stop or reduce the muscle damage associated with DMD. Some cancers are caused by the same kind of faulty switch, and therefore the same drugs that are used to treat these cancers may also have therapeutic benefit in Duchenne.

The team behind this project have previously experimented with these drugs in zebrafish models that have Duchenne, where they worked as expected.  They have also used two of the compounds on mdx mice, with encouraging results.  The next step is to use all four compounds individually and in combination in mouse models, over a longer period of time.  If successful this project will be a crucial step in gaining approval for a clinical trial of these treatments in human subjects.  Because the drugs used in this project are already approved for cancer patients they could potentially be fast tracked to the clinic for Duchenne patients if this research project is successful.


Scottish Clinical Research Fellowship


The Chief Scientist Office in Scotland, Action Duchenne and Muscular Dystrophy UK are delighted to announce a new partnership, which has made possible the award of a clinical academic training fellowship to Dr Shuko Joseph at the University of Glasgow.

Dr  Joseph  has been awarded the funds for a three-year project to better understand bone deterioration in the 2,500 children and young people living with Duchenne muscular dystrophy in the UK. The £239,000 project will be funded equally by the three organisations.

Duchenne muscular dystrophy causes muscles to weaken and waste over time, leading to increasingly severe disability. It leaves bones very weak and susceptible to breaks, which can result in the loss of physical abilities much earlier. Fractured bones sometimes lead to children and teenagers losing out on years of precious time on their feet.

Dr Joseph will use state-of-the-art imaging technologies and biological ‘markers’ to study bone health in people with the condition, and will work with healthcare professionals across Scotland to ensure the best possible protective care.

Alongside laying the foundations for treatments to reduce breaks, Dr Joseph’s appointment will also increase the country’s capacity for clinical trials. With no treatment addressing the underlying cause of Duchenne muscular dystrophy currently widely available in the UK, greater  clinical trial capacity is vital to allow children to benefit from potential therapies, and for new treatments to be developed for Duchenne.


Biomarker Panel Research Project


We are delighted to announce that the project titled ‘Definition of pharmacodynamics biomarker panel in a Phase 2a clinical trial of VBP15 in DMD’ has successfully completed our peer-review process. The aim of this proposal is to address the increasing concern that there aren’t enough Duchenne patients available to adequately satisfy the needs of the drug development programs in a timely manner. An acknowledged approach towards this end is the development of robust pharmacodynamics biomarker panels. These allow testing of the effects of a drug on much more acute time frames (2-4 weeks), and are considered more quantitative and less subject to bias.

This research project proposes the development of a pharmacodynamic biomarker panel as an exploratory outcome for Duchenne based on their already completed ‘deep discover’ of tests of 1,500 blood proteins in 140 Duchenne patients and 40 age-matched controls, as well as mdx mice. This panel will be integrated into the drug development program of VBP15, a promising novel drug that is entering their clinical trials. The developed pharmacodynamics biomarker panel is expected to allow dose selection in Phase 2a studies of VBP15, and thus taking an appropriate dose to Phase 2b efficacy studies. This same panel will likely be transferable to many other drug development programs in Duchenne.

The Lead Investigator for this project is Dr Eric Hoffman from ReveraGen Biopharma. He has requested funding for a 1-year proposal to complete the project; with total budget of: £55,000.


SKIP-NMD (exon 53 programme)


In late 2012, we awarded a small grant to be involved in the SKIP-NMD programme.  SKIP-NMD is an EU FP7 funded collaborative grant involving 10 partners from Europe and the USA, whose aim is to restore dystrophin production in a subset of DMD boys. This will be achieved by developing a drug which ‘skips’ exon 53 the mutations causing DMD, so as to restore dystrophin protein expression.

This exon skipping compound is based on Sarepta Therapeutic’s PMO AO chemistry and will potentially treat boys with deletions spanning exons 52, 45-52, 47-52, 48-52, 49-52 and 50-52 (about 6% of the population). The drug will first undergo pre-clinical tests, followed by a phase I/IIa clinical trial. The project will also develop new outcome measures and biomarkers to ascertain the drug’s effectiveness.

Action Duchenne are involved in the clinical trial management group and ethics board and the protocol is expected to be developed in June, with recruitment for the phase I trial expected in the third quarter of this year.


Enhancement of splicing efficiency between trans‐spliced DMD AAV vectors for the production of full‐length fully functional dystrophin protein.

Action Duchenne funded year one, and have now agreed to continue funding this project for a second year in 2015/16.

This is follow-on work from Dr Keith Foster who demonstrated that the triple-transplicing method of gene delivery does work in vitro and Professor Dickson’s will investigate this work further.

The aim of this proposal is therefore to use alternative strategies to improve the splicing efficiency between trans-splicing AAV vectors for the delivery of the DMD gene. The strategies, being equally applicable to both dual and triple trans splicing vectors for mini and full‐length DMD gene delivery, and also to the planned next generation of trans‐splicing vectors.


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