“These young boys’ beautiful, inquisitive minds become trapped in a broken body.”

Patient Group Spotlight - focus on Duchenne
photo children with Duchenne
Our patient partnership programme welcomes Duchenne UK, a support group for patients and families affected by Duchenne Muscular Dystrophy (DMD). By Dr Ankita Batla, Dr Kiran Khepar and Caitlin Rich

DMD is a genetic disease that causes muscle weakness and wasting, and can lead to full-time wheelchair use, paralysis and mental health challenges. DMD is typically diagnosed in childhood and mostly affects boys. There are around 2,500 DMD patients in the UK and an estimated 300,000 worldwide.

Emily Crossley co-founded Duchenne UK after her son was diagnosed with DMD as a young boy. We spoke to Emily to find out more about the disease and its impact. This is what we learned…

How does DMD affect patients and families?

People with DMD suffer from muscle weakness that starts in early childhood; as they age, their muscles become inflamed, then rigid and hard as they try to repair themselves. They eventually stop working. This means that at an early age, boys often become full-time wheelchair users, with weakness spreading to their arms and neck. Eventually, paralysis might set in, and young adults will need help with everyday activities such as eating, drinking and washing.

Advances in care, research and understanding of the disease are increasing life expectancy. Now, increasing numbers of young adults with DMD are leading full lives – going to university, having relationships and living independently. However, men and women with DMD still have a reduced life expectancy, and barriers still exist preventing disabled people from fully participating in society.

How is DMD treated?

Treatment for Duchenne is currently largely limited to corticosteroids. Overall, children with Duchenne who are treated with corticosteroids stay walking for longer and develop other complications less frequently. However, there can be significant side effects – the worst of which are significant growth delay, cushingoid (puffy face), delayed puberty and a weakening of the bones. More satisfactory treatments are urgently needed.

Multiple treatment approaches have emerged such as gene therapy, repurposing drugs and steroid alternatives, but developing new drugs can take years. Duchenne UK is funding clinical studies and pre-clinical work and has established the DMD Hub – a network of trial sites with trained staff – to carry out clinical trials into DMD to accelerate this research.

DMD must take a terrible mental toll on patients and families. Is there mental health support available?

When her son was diagnosed, Emily was offered no psychological support. There are also stories of young teenage boys who experienced suicidal thoughts only to be put on an 18-month waiting list to get mental health support. Whilst it is a huge positive that there are clinical trials dedicated to finding new treatments, when they fail it is devastating for families and takes away their sense of hope. The psychological impact of living with DMD – from both a patient and carer perspective – is significant.

Last year, Duchenne UK set up (and funded) DMD Care UK, a nationwide initiative to ensure every person living with Duchenne in the UK has access to the best care, including psychosocial support. Duchenne UK is also pulling together a statement to ask regulators whether there’s an opportunity for companies to plan for emotional impacts and risks of failure of clinical trials on patients.

What does Duchenne UK do to support families and patients affected by DMD?

Duchenne UK began life as a research charity – spending 100% of what it raised on funding and accelerating research. However, it has grown organically and responded to a pressing need within the community to be able to access information and support.

Over time, Duchenne UK has developed many resources to support patients and families affected by DMD, including a family folder of information and advice that is now handed out to each family by their clinician at the time of diagnosis. It also runs community webinars, information days and a podcast channel.

However, research remains its primary focus – and it continues to act as a catalyst for R&D and patient access in the UK. It is heavily involved in the approval and access of treatments and therapies for DMD.

In recent years Duchenne UK has:

  • Invested $5 million in SOLID Biosciences for the development of gene therapy. SOLID Biosciences dosed their first patient in 2018 in the US. Trials are not currently running in the UK
  • Funded and help set up a European-wide clinical trial to investigate the repurposing of Tamoxifen, a drug that is used to treat breast cancer. The trial is now fully recruited and running in 9 countries
  • Lobbied for the Early Access to Medicines Scheme (EAMS), in which a DMD drug was included, following the frustration of regulatory delays in getting treatment to patients
  • Set up and invested £2.7 million in the DMD Hub, a collaborative initiative with Newcastle and GOSH running clinical trials for DMD. Today there are 11 hub sites running trials for DMD, trusted by industry, with 250+ patients
  • Established Project Hercules, to build an evidence-base for DMD required by HTA bodies like NICE to approve treatments. The project engages patients and families every step of the way so that they are equal partners in the research. Activities include:
    • Building a bottom up disease model to include the aspects of disease important to patients
    • Analysing large sets of clinical data
    • Interviewing families to understand their quality of life in relation to DMD
    • Identifying evidence gaps
  • Set up and funded DMD Care UK, a nationwide initiative to ensure every person living with Duchenne in the UK has access to the best care.

For more information about Duchenne UK and DMD, please visit their website or follow them on TwitterFacebook and LinkedIn.