Newcastle expert who has helped pioneer a treatment to tackle a muscle wasting condition is urging NHS chiefs to back …

Kate Bushby, leading professor in neuromuscular genetics

A leading expert in the North East who has helped pioneer a treatment to tackle a rare muscle wasting condition is urging NHS chiefs to back the groundbreaking drug.

This month NHS England is expected to make a decision on whether to fund Translarna, the first treatment developed for sufferers of Duchenne muscular dystrophy.

The genetic illness is a progressive disease that is caused by mutations within an individuals DNA that prevents the body from producing the protein dystrophin. This protein forms essential connections in the muscle tissue, and without it muscles degenerate and become weak.

Translarna is designed to make the body skip genetic mutations when producing dystrophin. It is only suitable for 10-15% of those with the illness living with a nonsense mutation, which is estimated to be approximately 200 patients in the UK.

Earlier this year, the European Medicines Agency gave conditional approval for the drug. It is now up to individual EU member states to decide whether to fund the treatment.

Kate Bushby, a leading professor of neuromuscular genetics, has been spearheading a clinical trial of Translarna at The John Walton Muscular Dystrophy Research Centre, which is part of the Institute of Genetic Medicine at Newcastle University.

Prof Bushby said: Translarna is the first drug for Duchenne that has got conditional approval from the European Medicines Agency. It is really important that NHS England has a fast and transparent way to agree funding for these drugs for rare diseases, as delays and uncertainties are very damaging for the families who are waiting for these new treatments.

It is a drug that is targeted at a specific group of patients with Duchenne and they have to have a particular type of mutation in the dystrophin gene, and the children who are likely to be able to be prescribed Translarna are from the age of five up until when they are teenagers.

The treatment is not curative but there is real hope that it will help to stabilise the condition; will help to prevent people getting worse and maintain them with a better level of functioning than they otherwise would have.

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Newcastle expert who has helped pioneer a treatment to tackle a muscle wasting condition is urging NHS chiefs to back ...