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:
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To be at the forefront of identifying and supporting innovative and novel research into Duchenne.
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Expand the scope and capability of our patient registry (the ‘DMD Registry’) to facilitate clinical trial recruitment.
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Increase the collection of data from the wider patient population.
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Collaborating internationally, on the collection and sharing of biological samples (‘Biobanking’) to drive international translational research “from the laboratory to the clinic”.
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Ensuring the widespread adoption of the updated peer-reviewed, published, international clinical standards of care guidelines.
Anxiety study for young people and families living with Duchenne
