Press Office


Rare disease needs more resource


Experts have called for more money to be made available for research into treatments for Duchenne Muscular Dystrophy (DMD), after a new study revealed the full cost of the disease to UK society.

In the first study of its kind, academics have found that the overall care for each patient with DMD costs the UK economy about £71,000 every year, with a total nationally of about £120m.

Duchenne Muscular Dystrophy

Duchenne Muscular dystrophy affects one in 3,500 male births every year. The condition, which overwhelmingly affects boys, is caused by a faulty gene and the main symptom is severe and progressive muscle weakness, leading to falls and difficulty with motor skills. By the age of twelve most patients cannot walk, though treatment with steroids can extend walking ability. Ultimately, patients are unable to look after themselves, and are prone to breathing and heart difficulties which usually result in a life expectancy of around 30 years.

This study, led by Newcastle University and a team from the Karolinska Institutet in Sweden and which was funded by GSK, used Newcastle’s extensive contacts in the international TREAT-NMD network.  The team asked 770 patients and their primary caregivers in Germany, Italy, the UK and the US to complete a questionnaire on their experience of living with DMD and the impact this had on the need to access medical care, employment, leisure time and quality of life. 

The study is published today in the August 2014, issue of Neurology, the medical journal of the American Academy of Neurology. The direct cost of the illness across all countries was at least eight times higher than average health expenditure per person, while in the UK it was 16 times higher. The overall figures include the direct costs of the illness, including treatment such as medical devices, drugs and medical tests, as well as the cost associated with loss of employment amongst caregivers. In the UK, nearly half (49%) of caregivers reduced their working hours or stopped working completely due to their relative’s DMD.

Rare diseases underfunded

Professor Kate Bushby (pictured), Act. Res. Chair of Neuromuscular Genetics at Newcastle University, who led the research, said: “Rare diseases are massively underfunded generally and the cost to society is often hidden as so many costs are borne by the family themselves. Our figures show that DMD imposes a severe economic burden on the family and friends of affected people, as well as society as whole. It is essential that more money is spent trying to find ways of easing this burden on patients and families.”

Robert Meadowcroft, Chief Executive of the Muscular Dystrophy Campaign, said: “Failure to invest in the development of treatments, clinics and specialist healthcare for people with Duchenne muscular dystrophy is a frustrating false economy. Funding for specialist training and vital research infrastructure all too often falls to the Muscular Dystrophy Campaign and other charities.

“We are drawing closer to the first potential treatments for Duchenne muscular dystrophy reaching children and young people. The need for the Government and NHS to act on supporting emerging treatments has never been more urgent. We must invest in the specialist teams needed to deliver these potentially life-changing drugs and in turn, provide effective care for those who may live longer, fuller lives as a result of them. Efficiency and specialist expertise in treating Duchenne muscular dystrophy offers opportunities for both better well-being and vast savings.”

Diana Ribeiro, Director of Research at Action Duchenne, who run the UK patient registry used in the study, said: “If the government and healthcare givers commissioners were to invest in newborn screening and intervention at an earlier stage as and when these treatments become available this would mean reduced costs from healthcare professionals and families which only increase at later stages. Furthermore, as the life expectancy of those living with duchenne is increasing to late twenties and with the potential of a greater population living with Duchenne into adulthood with increased standards of care and potential therapy intervention; the quality of life of these families and young people needs to be considered, so we can invest in their future.”

published on: 7 July 2014