Duchenne muscular dystrophy

Duchenne is a rare, genetic, muscle-wasting disease that worsens over time and has no cure. It affects muscles involved in movement - including how someone walks and moves, to their breathing and how their heart functions.1 Approximately 1 in 3,500 - 5,000 boys worldwide are born with Duchenne while Duchenne in girls is very rare.1,2

The condition is caused by mutations of the DMD gene, which affects the production of the vital muscle protein, dystrophin. Dystrophin is essential for proper muscle function and protects muscles from injury during exercise. As a result of DMD gene mutations, the body produces no functional dystrophin which makes muscles more prone to damage and leads to a loss of muscle function over time.1 As muscles become weaker, children with Duchenne usually need to use a wheelchair by their early teens. As the disease progresses further, they will often require a ventilator to help them breathe. This is likely to occur in their twenties.

While Duchenne progresses differently in those affected, every person living with the condition will experience reduced independence and quality of life. The families and caregivers of people living with Duchenne are affected by emotional and financial burdens that increase as the condition progresses. Over recent years, earlier diagnosis and improvements in care have led to increases in life expectancy, with survival into the early 30s becoming more common in some countries.3

Current treatment options for Duchenne include corticosteroids, which can help slow progression of the disease but are associated with limited effectiveness.4 Recently, genetic medicines have been approved in a small number of countries for those with certain genetic mutations.5

Given the limited life expectancy of people with Duchenne, there remains a significant need for new treatment options and research is currently underway to explore the use of gene therapies in restoring dystrophin protein. Such therapies could be used to treat a broad range of patients and may provide an alternative to current treatment options, helping people with Duchenne live well for longer.1,3,6

Our ambition is to transform the future for those living with Duchenne by pursuing the potential of new treatments.

References

1. Duan D, et al. Duchenne muscular dystrophy. Nature Reviews Disease Primers. 2021;7:13. https://doi.org/10.1038/s41572-021-00248-3.

2. Broomfield J, et al. Life Expectancy in Duchenne Muscular Dystrophy: Reproduced Individual Patient Data Meta-analysis. Neurology. 2021;97(23):e2304-e2314.
   

3. Muscular Dystrophy Association. Duchenne Muscular Dystrophy (DMD). Available: https://www.mda.or

   g/disease/duchenne-muscular-dystrophy. Last Accessed: March 2023.

4. Gloss D, et al. Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016;86:465-472.

5. A brief history of Duchenne. Duchenne Awareness Day. Available at: https://www.worldduchenneday.org/history-of-duchenne/. Last accessed: March 2023.

6. Bushby K, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9:77–93.