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What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is a condition characterised by progressive muscle weakness and wasting, belonging to a group of diseases known as neuromuscular disorders. The first symptoms appear within the first few years of life and because of the way Duchenne muscular dystrophy is inherited (it is an X-linked genetic condition), it is mainly boys who are affected.

Duchenne muscular dystrophy is caused by mutations in the dystrophin gene which leads to an absence of dystrophin protein in the muscles. Dystrophin plays an important role in maintaining the structure and function of both skeletal (e.g. the muscles which move the legs, and arms) and cardiac (i.e. heart) muscle and without dystrophin, the muscles weaken and waste over time. This means that by the age of 5, children with Duchenne muscular dystrophy already have significant damage to leg muscles and experiences walking problems. By around 12 years of age, most children lose the ability to walk and in their later teenage years, the muscle weakness will affect the muscles in the arms and neck and those needed to breathe. Current medical interventions prolong walking by several years but a few people are living with the condition late into adulthood. Eventually the heart and respiratory muscles become so weak that the boys die either from cardiac arrest or respiratory failure.

Why we need SKIP-NMD?

Clinicians and scientists believe that restoring dystrophin to the muscles of children with Duchenne muscular dystrophy offers one potential way to treat the condition. It is hoped that by restoring dystrophin production, the loss of muscle and weakness may be slowed and muscle use prolonged. These potential treatments may not cure Duchenne muscular dystrophy, but could slow the progression of the condition.

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There are several technologies in development which show promise in restoring dystrophin production. One of these is called ‘exon-skipping’. This has the potential to restore production of a smaller dystrophin protein which retains at least some function. Although exon skipping will not cure Duchenne muscular dystrophy, the treatment may be able to reduce the severity of the symptoms to those seen in people with Becker muscular dystrophy, where the mutation in the dystrophin gene allows the production of a partially functional dystrophin protein. Both laboratory and clinical trials have shown the potential of this technique. SKIP-NMD is a project to design and test an exon skipping drug, known as an antisense oligonucleotide (morpholino; PMO) to skip exon 53 of the dystrophin gene and may have the potential to treat some boys with Duchenne muscular dystrophy.