We are proud of what our supporters have helped us achieve so far, we still have much work to do, but here is a snapshot of our progress so far:
- Invested in 23 projects from early-stage research to clinical trials, see below for some examples of the work we invest in
- Funded £120K into 4 clinical posts expanding the areas where clinical trials are taking place so that more children can access trials
- Invested £697K into ground-breaking scientific research and clinical trials
- Raising the profile of Duchenne across the East Midlands and the UK through media interviews across TV, radio and press, the more people who are aware of this devastating condition the more chance we have of finding a cure
- Lobbying governments to help speed up access to promising new drugs
- We have won several awards in the East Midlands region for our vital work to the local community
Together we are so much stronger. Join us on our mission to end Duchenne for all and help saves lives of thousands of children in the UK and Worldwide. Thank you for your support.
The investments we have made include funding the following innovative projects:
- Phase 2 Study of Edasalonexent in older boys – Undertaken by Catabasis Pharmaceuticals to investigate if Edasalonexent is safe and efficacious treatment for Duchenne in the non-ambulant population, with a similar pharmcokinestics and safety profile as previously demonstrated in young boys, and with positive effects on skeletal muscle, as well as respiratory and cardiac fundction while maining an excellent safety profile. This is a 3 year project to be completed by March 2022.
- Improving the success rate of clinical trials Promising drugs for Duchenne Muscular Dystrophy (DMD) which are tested on animals do not always respond the same way in humans. In December 2019 the community was devastated by news that another clinical trial had been terminated. Wave Life Sciences announced that their stereopure exon skipping drug suvodirsen, had failed to produce dystrophin. The news was a big blow, not least because early data in animals had shown that the drug was effectively producing dystrophin. Early stage tests are done on mice with DMD and then transferred to trials in people – but there is uncertainty whether a drug might behave the same in the human body. We want to stop this. That’s why we’re announcing further investment in a project which has the potential to help us understand, at a much earlier stage of research, whether a medicine will help treat DMD patients.
- Creating new muscle 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 stem cells that can create healthy myofibers 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 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.
- Testosterone Extension Study – The extension study will investigate whether testosterone treatment to induce puberty will be enough to support long term testosterone production, or whether further treatment with testosterone is needed for patients on long-term steroids to keep producing testosterone, even if puberty was successfully induced. Our funds will support the clinical trial at the John Walton Muscular Dystrophy Research Centre (JWMDRC), led by Prof Volker Straub and Dr Claire Wood, treating 15 adolescents with DMD with testosterone to induce puberty.
- EVOX – Exome-mediated delivery of dystrophin mRNA constructs – Our funding will support a research project investigating an alternative gene therapy delivery method. This is an early pre-clinical stage exploration of the potential of exomes to deliver gene therapy to target organs without the use of viral vectors.
- Tamoxifen Extension Study – In 2017, we supporting a project to fund TAMDMD, a phase 3 clinical trial to test the breast cancer drug tamoxifen for use in patients with Duchenne muscular dystrophy. In June 2018, the first patients were dosed in this trial. So far, 12 patients have been dosed from a total of 99 participants. But what happens when the trial is over? We think it is important that all trial participants (especially those being on the placebo arm) have access to the treatment once they have completed the trial. This is the case in most clinical trials and is known as the Open Label Extension Study. That is why we committed further funding of the TAMDMD trial, for an open label extension study. The open label extension study will allow participants to continue in the study after they have completed the main trial. During this extension study all participants will be taking tamoxifen, whereas in the main trial half of the participants will have been taking a placebo. Efficacy data will still be collected and participants and safety monitoring will continue throughout. The open-label extension study will help gather long term data on the effects of tamoxifen on patients with DMD.
- Heart study (Arrythmias) with Dr John Bourke (Newcastle) – Defining the prevalence of minimally symptomastic / asymptomatic tachy- and brady- arrhythmias in patients with advanced cardiac dystrophinopathy (DMD and Becker MD) ‘Sudden death in BMDMD’ – Defining the prevalence of minimally symptomatic/asymptomatic tachy- and brady- arrhythmias in patients with advanced cardiac dystrophinopathy [Duchenne & Becker muscular dystrophy]. Looking at cardiac arrhythmias in DMD with a view to the monitoring and potential treatment of ‘silent’ cardiac events.
- Assisted Suit with Solid Biosciences – Solid Biosciences is working with Seismic, a powered clothing company, on developing soft, wearable, assistive clothing which could help patients with DMD with movement. We hope wearable assistive devices could help those with DMD perform day-to-day activities with greater ease. The devices use cutting-edge military technologies. The wearable assistive devices could provide a power boost to patient’s movements without worsening the underlying muscle weakness and progression of inflammation. The project looks at a series of complementary components to make the assistive devices modular. Solid Biosciences hope that this strategy will allow users to mix and match components according to their individual needs.
- Combination therapy with Tamoxifen – we helped support with an investment of £200,000 for Dr Olivier Dorchies at the University of Geneva, towards a 2-year pre-clinical study into a combination therapy for Duchenne Muscular Dystrophy. The study will investigate the effect of combining Tamoxifen, L-citrulline and metformin for the treatment of DMD. Specifically, it will determine the optimum doses of L-citrulline and metformin, to combine with tamoxifen, for maximum efficacy and safety. The study will also determine whether there is an advantage to combining these compounds, at those doses, with prednisolone, the most commonly prescribed steroid for the treatment of DMD. The study is important because it has the potential to provide us with the essential pre-clinical data to determine effective dosing in patients at a later stage. Currently we do not know the appropriate and relative doses that may prove effective. Tamoxifen, a licenced breast cancer treatment, has been shown to be an effective treatment in dystrophic mice. It has been shown to slow down the damage to the heart, muscles and diaphragm as well as improve motor functions. Repurposing medicines that are already approved for use and have been tested on humans is hugely advantageous as information on their pharmacology, formulation and potential toxicity already exists. This may dramatically reduce the time it can take to get medicines into the clinic to be tested for new indications on patients.
- Gene Therapy with Solid Biosciences – We were told gene therapy would not happen in our lifetimes. But we did not accept that. In 2014, We partnered with Duchenne UK to help fund pre-clinical work for Solid Biosciences’ gene therapy programme. As a result of that investment, Solid GT was able to generate data that led to a financing round last year, where they raised $42million. We as charities could not have raised that. But our investment – early in the process and a relatively high risk for other big investors – helped to drive the company to raising the money they needed. And we continue to work with Solid to give advice as patients and as advocates. We are on this journey with them. Just three years later, their compound is IN THE CLINIC being tested on boys with DMD! We are extremely proud to have played a part in helping to accelerate the development of this gene therapy treatment. We await with hope the results of the study. Andrey Zarur, Founder and Chairman of Solid Biosciences, said: “For the first time in history, Duchenne muscular dystrophy will have a fully-funded platform to explore gene therapy through a rigorous scientific and clinical process.”