From the first phone call, I felt completely understood and supported. Speaking to other DMD parents who work for Action Duchenne has truly been a lifeline for me, and they have never wavered in their support and patience. - Lizzie Deeble (Duchenne parent)

Duchenne muscular dystrophy affects around 2,500 people in the UK, the vast majority being male. It is
caused by mutations in the dystrophin gene which stops the production of a vital muscle protein – over
time this causes muscles to weaken and waste away. The first signs of Duchenne happen in the early
years of life and it is usually diagnosed around 4 years old. It reduces life expectancy to an average of
approximately 30 years and has no cure – there is only one approved treatment in the UK, which is suitable in only 13% of people living with Duchenne.

Summary 

Our work to date has seen over £10m invested in ground-breaking research, educational programmes for those living with Duchenne and campaigns focusing on access to new treatments and improved care. We work in collaboration with other charities, government agencies, NHS and care organisations, academia, biotech and pharmaceutical companies to accelerate the changes we want to see. We hugely value input from parents who have a child with Duchenne, together with adults living with the condition who can give their experience of the condition and educate others.

Since its establishment in 2001, as the first national charity dedicated to supporting those living with Duchenne, Action Duchenne has made some incredible achievements;

We acted as a springboard for other patient groups including DMD Pathfinders – founded through our Takin’ Charge lottery funded project.

We manage and curate the DMD Patient Registry, a national database that holds genetic information for people living with Duchenne in the UK with a focus of bringing clinical trials to the UK.

Through our research funding, we have enabled the design, testing and refining of gene therapy for Duchenne through the Unite-DMD clinical trial.

Our campaigning ensured Translarna, the first drug to treat an underlying genetic cause of Duchenne, was made available in the NHS across the United Kingdom.

Our conference is the largest and best attended in the UK and brings together hundreds of people from the Duchenne community worldwide. It is respected by healthcare professionals, pharmas and families alike and is a big asset to many.

Through our social media channels and newsletter we have helped to educate a wider audience about
Duchenne and ensure people are better informed about the condition.

Our objectives

We recognise that whilst science is being funded and therapeutic approaches explored, there are many people that the current approaches may be unable to help. As a charity for everybody living with Duchenne, we must also support those individuals and their families until scientific breakthroughs provide treatments or cures.

Our new vision is clear

“To have a world where lives are no longer limited by Duchenne muscular dystrophy”

And we have three overall core objectives to deliver our work:

DEVELOPING EFFECTIVE TREATMENTS FOR ALL...by funding research, educating clinicians and researchers, supporting clinical trials and campaigning for access.

BUILDING A COMMUNITY...through uniting families, educating about Duchenne and raising the profile of the condition to a wider audience.

STRIVING FOR A MORE INCLUSIVE SOCIETY...promoting the importance of human equality, day to day acceptance of disability and accessibility.

Help us change the future