Therapy advance could aid young victims of spinal wasting disease

CHILDREN who suffer from the devastating incurable disease spinal muscular atrophy (SMA) are set to benefit from a new breakthrough in therapy by researchers at Sheffield University.

Affected children are never able to sit or stand unassisted and, without breathing support, usually die before they reach the age of two.

Now, a team of scientists at Sheffield University, led by Prof Mimoun Azzouz, have made a breakthrough in gene therapy treatment after carrying out experiments on a group of mice with the disease.

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Prof Azzouz, from the university's department of neuroscience, said: "I am delighted by the outcome of several years of efforts to tackle this devastating disease.

"These results bring us one step closer to a successful gene therapy treatment for patients with SMA."

SMA is caused by an abnormal survival motor neuron (SMN) gene, which leads to a reduction of SMN protein levels. In their research, the academics used a gene replacement therapy and injected the mice with the SMN gene.

They found that this successfully restored the SMN protein to normal levels and alleviated symptoms of SMA.

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This new technique, which achieved the highest therapeutic effects reported in the field to date, therefore has the potential to develop a simple injection to treat symptoms in children.

Meanwhile, two more studies carried out by academics in Sheffield have uncovered new information about the way in which accident and emergency departments in the UK and the USA operate.

One study discovered patients who attend emergency departments operating a prioritising system, based on their condition, are likely to wait too long for treatment.

The researchers found that, in American emergency departments where all walk-in patients receive a formal nursing assessment and priority score before seeing a physician, less than half of the most acutely ill patients are identified within the recommended time frame, and 10 per cent are not recognised for 30 minutes or more.

A second study found that patients receiving treatment in departments which meet their target times have a better overall experience than in those which do not meet this goal.

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