Academics from Royal Holloway, University of London and a team lead by scientists at the UCL Institute of Child Health (ICH), have made an important breakthrough in the development of a treatment for Duchenne muscular dystrophy (DMD) which in the future could help the likes of the Lloyd family who were featured on a recent X-Factor T.V. show in the U.K.
The family's story was shown before the X Factor stars performed the show's charity song in aid of sick children. In a moving interview the boys' parents Helen and Chris Lloyd spoke about when their identical twins Dan and Sam, 16, were first diagnosed with the genetic disease DMD when they started showing signs of struggling to move.
But the family's ordeal got worse when younger brother Tom, 13, was also diagnosed with the life-limiting condition that affects one in 3,000 male births in the general population, with around 100 cases diagnosed in the UK each year.
Together with the MDEX Consortium, Professor George Dickson from the School of Biological Sciences at Royal Holloway showed that a gene-based drug treatment was effective in restoring the dystrophin protein that is missing in sufferers of DMD, in seven out of 19 trial participants.
DMD causes progressive muscle weakness due to the breakdown and loss of muscle cells. Patients lack a single important protein in their muscle fibres called dystrophin. By the ages of eight to 12, boys become unable to walk and by their late teens or early twenties the condition can become severe enough to limit life expectancy.
In this clinical trial of 19 patients, study participants aged five to 15 at Great Ormond Street Hospital and the Royal Victoria Infirmary, Newcastle, were given weekly doses of the drug, AVI-4658. The drug had already been tested for safety and efficacy by the MDEX Consortium and AVI Biopharma in an earlier phase of the study (Kinali et al, Lancet Neurol 2009).
Professor Dickson said: "Duchenne dystrophy is a very serious inherited disorder which affects 1 in 3,000 boys from age four onwards so to have all three brothers affected by the disease is very rare indeed. It is a progressive and severe muscle wasting disease which is currently untreatable. But our ongoing clinical trials have great promise as a long-term treatment and we hope in future to be able to help transform the lives of families like the Lloyds who have to go through this terrible ordeal."
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