making muscle wasting history

Action Duchenne applauds publication of internationally agreed Standards of Care for the treatment of Duchenne Muscular Dystrophy

First step is taken towards bringing an end to the current ‘postcode lottery’ of care for those living with Duchenne

• Article Posted: 04 December 2009
• Permanent Link

Action Duchenne today announced its delight that a long awaited document setting out standards of care for Duchenne Muscular Dystrophy (DMD) has been published online by the Lancet Neurology. The document, entitled Diagnosis and management of Duchenne muscular dystrophy, is a major international consensus publication resulting from an extensive study by 84 experts in DMD care. It was led by the American Centers for Disease Control and funded under the US MD Care Act, with expert panels covering the range of specialties required for multidisciplinary care from around the world. Kate Bushby, Professor of Neuromuscular Genetics at Newcastle University, UK was the managing editor.

The process to develop the Standards of Care took three years, in which time the panel of experts gathered evidence from literature, as well as using a special methodology called the RAND/UCLA appropriateness method as an unbiased way to build consensus. In total the expert panels considered more than 70 thousand different clinical scenarios. Prof. Kate Bushby said, “The process has been extremely rigorous to ensure that the resulting document carries as much credibility and weight as possible. The Standards of Care document will help to build the case for multi-disciplinary teams, so that for instance, heart and lung specialists, along with others, are included within effective treatment programmes for all Duchenne patients.”

Nick Catlin, CEO of Action Duchenne commented, “We are delighted that these Standards of Care for Duchenne are now being published because the care and treatment received makes such a huge difference to length and quality of life for our children. It is now crucial that the NHS agrees to adopt these recommendations. Action Duchenne has been working hard lobbying government ministers in London, Edinburgh, Cardiff and Northern Ireland to bring about an end to the current ‘postcode lottery’ approach to health care for boys and young men living with Duchenne. The Muscular Dystrophy Campaign has also been doing some great preparatory work with NICE.”

Mr Catlin continued, “This document will give health service professionals a solid baseline from which to work to improve care for our children. In addition it will go a long way to support Action Duchenne’s calls for all those living with Duchenne to receive care from a multi-disciplinary team based at a Centre of Excellence within 50 miles of their home.”

The online publication of the Standards of Care on the Lancet Neurology website will be the first phase of the dissemination. The document will be published in two parts across the January and February issues of the Lancet Neurology printed journal. In close collaboration with patient advocacy groups worldwide, the full academic publication is also being transformed into a comprehensive “family guide” by TREAT-NMD (www.treat-nmd.eu), a network formed to advance diagnosis, care and treatment for people with neuromuscular diseases worldwide. The ‘family friendly’ booklet version will explain the range of care recommended for each aspect of the condition in easy to understand language. Once written the booklet will be available for download from the Action Duchenne and TREAT-NMD websites and distributed through national patient registries like the UK DMD registry (www.dmdregistry.org).

Duchenne muscular dystrophy is the most severe form of the condition, affecting around 3,500 people in the UK and about 40,000 people worldwide. It has no cure and is caused by mutations in the dystrophin gene that prevent correct reading of the genetic code, the result of which is that the essential muscle protein dystrophin is not produced. This results in progressive muscle wasting, severely limiting mobility in teenage patients (boys and men) and leading to premature death in their twenties from respiratory or cardiac problems (the heart muscle is directly affected by the genetic defect).
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Document details
Bushby K et al, Diagnosis and management of Duchenne muscular dystrophy part 1 and Diagnosis and management of Duchenne muscular dystrophy part 2, The Lancet Neurology, In press 2009.

Link to the Lancet Neurology article (parts 1 & 2 combined) hosted on the TREAT-NMD website: http://www.treat-nmd.eu/diagnosis-and-management-of-dmd

Links to the Lancet Neurology article via Science Direct:
Part 1: http://dx.doi.org/10.1016/S1474-4422(09)70271-6
Part 2: http://dx.doi.org/10.1016/S1474-4422(09)70272-8


Notes to Editors

About Action Duchenne
Action Duchenne (formally Parent Project UK) was set up by Duchenne families in 2001 to promote new research for a cure for Duchenne. The charity has a strong record in funding research and has to date funded 8 major projects costing £800,000 and has lead the £1.6m DoH funding of the MDEX project. These projects have enabled much needed early work to be completed on exon skipping and other therapeutic approaches.
Action Duchenne holds an international conference every year to bring together researchers and families to exchange new research developments and provide a vital meeting venue for scientists.

In 2005 Action Duchenne launched the Duchenne Registry, the first National Duchenne database that holds gene information of people living with Duchenne and can be used to speed up the recruitment of patients for clinical trials.

In 2006 Action Duchenne launched a comprehensive learning and behaviour toolkit for use by parents and education professionals.

For more information please visit: www.actionduchenne.org

Editors Contacts
Nick Catlin
CEO, Action Duchenne
Tel: 0208 556 9955
Email: nick@actionduchenne.org

Andreina West
PR Artistry Limited
Tel: 01491 639500
email: Andreina@pra-ltd.co.uk

http://www.treat-nmd.eu/diagnosis-and-management-of-dmd