Great Ormond Street Hospital Patients Take Part In Duchenne Muscular Dystrophy Clinical Trial
Released on: July 26, 2011, 10:40 am
Great Ormond Street Hospital
Great Ormond Street Hospital has announced that a team led by
scientists at its research partner, UCL Institute of Child Health
(ICH), funded by the Medical Research Council (MRC) and AVI BioPharma,
have made an important breakthrough in the development of a treatment
for Duchenne Muscular Dystrophy (DMD).
Together with the MDEX Consortium, chaired by the ICH's Professor Francesco
Muntoni, the group showed that a gene based drug treatment was effective in
restoring the dystrophin protein, missing in sufferers of DMD in seven out of 19
The results of the clinical trial will be published in The Lancet, a world leading
general medical journal.
DMD is a devastating and life limiting condition, affecting one in 3,500 male births
in the general population, with around 100 cases diagnosed in the UK each year.
Three of the participants in the higher dose cohort showed dystrophin levels
exceeding 18 per cent of those found in normal muscle.
Thirteen per cent of boys with DMD could be treated with this specific 'antisense'
gene therapy, the largest group by a single antisense. Overall, scientists say this
approach could work for at least 70 per cent of DMD sufferers.
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 ages eight to 12 years boys become unable to walk, and by their late
teens or early twenties the condition can become severe enough to limit life
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.
Francesco Muntoni, professor of paediatric neurology at the ICH, said: "These are
very exciting results that prove the case for an even more detailed look at this
genetic therapy. I've worked with patients with DMD for many years and this is the
first time we can say with confidence that we've made a significant breakthrough
towards finding a targeted treatment.
"Importantly, the study drug was extremely well tolerated, with no appreciable side
effects detected during the study period in any of the boys. If our strategy shows
continued success, this therapy could substantially reduce muscle damage in affected
boys with DMD, improve the quality of life for DMD patients, their mobility and the
way their condition is managed as they get older."
Professor Max Parmar, director of the MRC Clinical Trials Unit, said: “A large
proportion of new drugs do not make it past the phase II stage of testing reached
here, so there is real excitement that this treatment could work.
Brothers Jack, 11, and Tom, 8 were enrolled on the trial. Both have DMD with a
deletion from 45-50. Their mum, Claire, said: "Jack and Tom were placed on a DMD
genetic registry, co-ordinated by Action Duchenne, which is how we were approached
about the clinical trial at Great Ormond Street Hospital.
"The boys were on the trial for 12 weeks between 2009 and 2010. Our whole family
noticed a marked difference in both of their quality of life and mobility over that
period. We feel that it helped prolong Jack's mobility and that Tom has been
considerably less fatigued."
About Great Ormond Street Hospital:
Great Ormond Street Hospital is an international centre of excellence in child
healthcare and together with its research partner, the UCL Institute of Child
Health, GOSH forms the UK's only academic biomedical
research centre specialising in paediatrics.
40 Bernard Street
0207 239 3126
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