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Duchenne Muscular Dystrophy (DMD) is an incurable progressive muscle
wasting disorder presenting within the first few years of life. Without
medical intervention patients are unable to walk beyond ~12 years, and
do not live past their late teens.
DMD is an X-linked genetic condition,
affecting mainly boys, arising from mutations in the DMD gene which
blocks the production of the protein dystrophin, in all body tissues. In
both skeletal and cardiac muscle, dystrophin is essential to maintain
their integrity and structure.
A 5 year old DMD boy has already significant damage of muscle and decrease proportion of healthy muscle mass and experiences walking difficulties. This affects the ability of affected children to fully participate in many age appropriate activities. Current medical interventions prolong ambulation by several years and life expectancy to the late twenties, but no treatment addresses the absence of dystrophin. There are several drugs in development which show promise in restoring dystrophin production.
It is hoped that by reinstating dystrophin, the loss of muscle mass and weakness will be slowed and prolong muscle use and enhance life-quality.
DMD is a rare orphan disease (ROD), and it is this low number of affected individuals, often geographically disperse, that impedes progress in developing treatments.
Fortunately, the EU FP7 Co-operation Health Theme funds projects wishing to advance innovative therapeutic approaches and interventions for any ROD. With this in mind, in February 2012, Prof Francesco Muntoni, a paediatric neurologist from University College London, UK, submitted a collaborative grant application to this EU theme, to advance DMD treatment, using a novel drug to restore dystrophin production in a subset of DMD boys.
The grant application- SKIP-NMD- was successful, and gained 3 years funding from 1st November 2012. It involves 10 scientific/clinical/industrial partners from Europe and USA many of whom are already collaborating on other projects.