Action Duchenne, a leading UK-wide patient and parent-led organisation for Duchenne Muscular Dystrophy, is delighted to announce the publication of a new 3 year research strategy.

Duchenne muscular dystrophy (DMD) is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births (around 2500 people have DMD in the UK). Because the Duchenne gene is found on the X-chromosome, it primarily affects boys with less than 1% of those with Duchenne being female. However, it occurs across all races and cultures. Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin.

Since launching the initial research strategy four years ago, the charity has been instrumental in the significant progress made across all of the priorities we identified.  The new research strategy will focus on a number of areas of unmet need, including making access to trials possible for the entire Duchenne population (both paediatric and adult); many of the challenges for teenagers and adults living with Duchenne remain largely unaddressed:

  • To be at the forefront of identifying and supporting innovative and novel research into Duchenne.

  • Expand the scope and capability of our patient registry (the ‘DMD Registry’) to facilitate clinical trial recruitment.

  • Increase the collection of data from the wider patient population.

  • Collaborating internationally, on the collection and sharing of biological samples (‘Biobanking’) to drive international translational research “from the laboratory to the clinic”.

  • Ensuring the widespread adoption of the updated peer-reviewed, published, international clinical standards of care guidelines.

Since its founding in 2001, Action Duchenne has led the way in supporting vital research for potential treatments that may in the future, lead to a cure for Duchenne. The charity is proud to have taken a leading role in the MDEX consortium which secured early government funding for exon skipping research back in 2003, before establishing a national Duchenne DMD patient registry and supporting the subsequent Exon 51 trials.

Action Duchenne also established an annual international research conference, attended by families, researchers, clinicians and industry representatives. This has played a leading role in driving forward collaboration, both in the UK and globally, amongst all the healthcare stakeholders. It is now a globally recognised calendar event for the field.

We are also supporting the first ever gene therapy trials in the UK.  Securing access to new treatments which arise from drug development and clinical trials remains a priority; Action Duchenne were at the forefront of securing the breakthrough Managed Access Agreement for Translarna with the NHS and NICE in 2016.

The progress which has occurred over the past decade in Duchenne research and therapy development is testament to all of the determined families who recognised the worth of early research and made precious funds available.  Action Duchenne is truly grateful for the heroic work of the families and boys who have participated in all of the clinical trials to date.

“Back in 2013 we published the first Duchenne specific research strategy, identifying new areas of state-of-the art translational research such as gene therapy. The progress in Duchenne research since then is thanks to the financial support and campaigning of organisations like Action Duchenne. The launch of our latest research strategy is an important step in the journey which Action Duchenne first embarked on back in 2001.”

“The community has begun to realise that individuals with Duchenne are living longer, with the need to tailor treatment for both ambulant and non-ambulant individuals being more important than ever. The new Action Duchenne strategy reflects this change supporting innovative research and current clinical trials, with a real focus on improving the quality of life of all those affected.”  Benjamin James, Neuroscience undergraduate, Member of Action Duchenne Research Committee and living with Duchenne.

Further information contact [email protected] or visit www.actionduchenne.org