Research to Help Children With Muscle Disease | Action Medical Research | Children's Charity

Researchers hope to improve the lives of children with a disabling muscle disease

This research was completed on 31 May 2010

Published on 9 January 2008

JDM is a disabling muscle disease that can strike children of any age, though it most often starts between 4 and 10 years old. Treatment can be effective, but is complex, often involving many different drugs. Sadly, for the most severely affected children, the illness can prove fatal. Researchers believe a new diagnostic tool could help ensure each child gets the best possible treatment early, so they can return to health as quickly as possible.

What's the problem and who does it affect?

Inadequate diagnostic tools put children at risk

Children with JDM - juvenile dermatomyositis - suffer pain, fatigue, skin rashes, muscle ache and weakness. If untreated, this rare, disabling muscle disease can leave children so weak they are unable to walk, run, climb or do sports. Even mundane activities such as getting out of a chair can be extremely difficult. Sadly, the most severely affected children can even lose their lives to their disease.

With treatment, most children do eventually improve. But the same medication does not work for every child. Treatment is often prolonged, intensive and complex, involving many medicines, hospital visits and physiotherapy sessions.

Evidence suggests that early treatment with powerful drugs might help prevent the most serious complications. But this aggressive treatment carries risks of side effects, so it is important that it is given only to children who need it most.

Unfortunately, we have no reliable way of predicting how each child's illness will progress, who will be the most severely affected, or how they will respond to treatment. This makes treatment decisions difficult, meaning children don't always get the most appropriate treatment from the outset.

What is the project trying to achieve?

Predicting the severity of each child's illness

Identifying whether a child has JDM can be a complicated and lengthy process, involving many different diagnostic tests, such as blood tests, a muscle biopsy and MRI scans.

When a child has a muscle biopsy, a small sample of muscle is removed and assessed for abnormalities that are associated with JDM. These include damage to small blood vessels, inflammation around blood vessels and wasting away of muscle fibres.

Working with international collaborators, the researchers have developed a scoring tool for use with muscle biopsies - a new way to measure the severity of the abnormalities seen in biopsies. In this project, they are investigating whether the scoring tool can be used to predict how severe a child's illness is likely to be in the future and how they will respond to therapy.

Researchers are also investigating whether there's a link between the level of disease activity and the level of a particular group of proteins, called myeloid related proteins, in the blood. The work will involve assessments of over 50 children.

What are the researchers' credentials?

Project LeaderDr L Wedderburn BA MBBS PhD MRCP
Project team
  • Dr Clarissa A Pilkington MMBS BSc MRCP
  • Dr Janice L Holton MBChB PhD FRCPath
  • Ms Hemlata Varsani BSc
LocationRheumatology Unit and the Juvenile Dermatomyositis Research Centre, Institute of Child Health in conjunction with Division of Neuropathology, Institute of Neurology, National Hospital and Neurosurgery, University College London
Other locations
  • Juvenile Dermatomyositis Research Centre, Institute of Child Health, University College London
  • Division of Neuropathology, Institute of Neurology
  • National Hospital for Neurology and Neurosurgery, University College London
DurationTwo years
Grant awarded9 October 2007
Start date1 November 2007
End date31 May 2010
Grant amount£114,392.00
Grant codeSP4252

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The Project Leader, Dr Lucy Wedderburn, heads one of the leading centres for research into JDM in the world. Over the past few years, Dr Wedderburn has received increasing numbers of invitations to join top international research groups and networks on myositis.

The project team has a strong track record, has published widely on JDM, and has compiled the National Registry on JDM, a uniquely detailed collection of data and samples on over 250 children with myositis. Close links with muscle experts at their University's Institute of Neurology has strengthened their work hugely.

The researchers feel privileged to have brought together a group of world experts for this study of muscle biopsies. Together, they form a very powerful group.

Who stands to benefit from this research and how?

Helping children get the best possible treatment

Researchers hope their study will lead to a new way to predict how severe a child's JDM is likely to be in the future. This would be a major step forward.

It may help doctors to identify how well each child is likely to respond to treatment, so they can choose the very best treatment for each child, right from the start. It could also allow earlier and more effective treatment of children who are at risk of complications and severe illness.

Potential benefits to children with this rare condition are far-reaching. With earlier and more appropriate treatment, children may find their symptoms improve much faster, that they return to health sooner. This could reduce the time that children spend in hospital, and help prevent disability, pain and suffering. Children may miss less school, and find it easier to play with their friends.

In the long run, researchers believe better treatment might also help prevent disability from continuing into adult life.

'It is very difficult to get funding for studies of rare diseases, yet this study should make a real and vital difference to families who have a child with JDM and other patients as well. We are therefore delighted to have been awarded this funding from Action Medical Research.'

Dr Lucy Wedderburn

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