why was not the trial extended? company restructuring and a failure to get the drug into production are believed being reasons. AVI BioPharma (now trialling the drug inside a separate US study) told The Telegraph it absolutely was “encouraged by the preliminary data”. it absolutely was working to “secure grant funding which would allow us to offer significantly more dosing of the drug in these patients”.
The frustration is shared by Prof Muntoni, who may look for charitable and government finances to support a study on the results of the drug on muscle function. But even if finances are found, the trial wouldn’t begin till summer time 2012 at the earliest, by which time many boys may have weakened further.
Could the new drug invert the symptoms of DMD? Prof Muntoni says: “We first must look at whether it can slow lower the improvement of the disease. If it can perform that, then we might look at whether it can actually get young children better.”
Despite the setback, the outcomes of research into exon skipping are encouraging. A Dutch company, Prosensa, is also testing a molecular patch for exon 51 and is expected to announce promising interim outcomes next week. And GlaxoSmithKline is investigating the drug’s outcome on muscle function inside a bigger trial due to survey next year.
The issue has wider implications for how gene-based treatment is regulated and could be a model for how personalised medicine is place into practice, according to Nick Catlin. Duchenne could be caused by dozens of slightly different genetic mutations (or exon deletions), each 1 needing its own different molecular patch.
“Under current regulations, you would must trial lots of drugs which are chemically very nearly identical. and it requires years before a drug gets to market. in the recent exon skipping trial, it took 7 years to get from the pre-clinical point to the clinical stage. 7 years is a lengthy time in the life of a boy with Duchenne and we can’t spend this time on a treatment for each achievable gene mutation.”
Lisa and Rob, meanwhile, are performing all they could to give Cameron, now 11, a full a life as achievable – including a vacation to australia when he was eight. A boy who, like many, adores drawing and dinosaurs, he is conscious the diseases could eventually have an impact on his arms. “He has asked me: ‘When that happens, Mum, how am I going to eat?’ I tell him not to be troubled about it.
“We are resigned to the truth we will not have him for ever,” she adds. “You try to prepare yourself – but you never can.”
Duchenne muscular dystrophy: the facts
There happen to be great advances in the care of those with Duchenne muscular dystrophy (DMD). due to the fact the 1960s, when the worst-affected boys could anticipate to die by about 14, life expectancy has risen significantly. Kate Bushby, professor of neuromuscular genetics at Newcastle University, claims if new guidelines on care are met, it is achievable for boys with DMD to live fulfilling life nicely into their forties.
Duchenne affects mainly males, with about a hundred boys with DMD created annually in the UK. it is 1 of the most popular of significantly more than 20 kinds of muscular dystrophy, every one of which are caused by genetic defects; even though girls rarely develop the disease, they may carry the gene. influenced young children usually show the first signs of difficulty walking aged 1 to three. By eight to 11, most boys are unable to walk. many other muscles could be affected, and some boys also have learning and behavioural difficulties.
No heal has been discovered, but research on gene-based therapies is showing promise.
Prof Bushby is heading up new global care standards for Duchenne, currently being accredited by Nice. They include guidance on early diagnosis, regular monitoring for heart and breathing problems, using steroids (the only drugs known to slow the drop in muscle strength), physiotherapy, and measures to reduce the risk of scoliosis (spine curvature).
Yet, so far, implementation of the new standards is patchy, claims Prof Bushby. “If these boys do not have the care they need, their life expectancy will be shorter.” She stresses that action at EU level, through Treat-NMD, a network of experts included in neuromuscular diseases, has aided nations collaborate in research on and administration of DMD. national individual registries happen to be setup to enhance standards of care.
“It’s easy for rare diseases such as DMD to get overlooked when the priorities are cancer, obesity and heart disease,” she says. “A significant challenge remains in the delivery of care and that is what the EU is trying to act on.”