'Historic' first ever drug for Duchenne muscular dystrophy approved

There are around 100 boys born with Duchenne muscular dystrophy each year and there are 2,400 living with it currently.

Patients with the condition lack normal dystrophin, a protein found in muscles. Because this protein helps to protect muscles from injury as muscles contract and relax, in patients with the disease the muscles become damaged and eventually stop working.

In 10 per cent to 15 per cent of cases, the condition is caused by specific mutations in their genes, called nonsense mutations.

Nonsense mutations in the dystrophin gene prematurely stop the production of a normal dystrophin protein, leading to a shortened dystrophin protein that does not function properly.

Translarna is thought to work in these patients by enabling the protein-making apparatus in cells to skip over the defect, allowing the cells to produce a functional dystrophin protein.

The European Medicines Agency had initially turned down Translarna due to a lack of evidence.

However after representations, it reconsidered the drug, including a new analysis of data submitted by the manufacturer PTC Therapeutics.

It has now been given a conditional licence which allows early access to medicines for life threatening diseases.

Robert Meadowcroft, chief executive of the Muscular Dystrophy Campaign, said: This decision by the EMA is fantastic news.

"There are 200 or more children and young people in the UK who live with Duchenne muscular dystrophy caused by a nonsense mutation, for whom Translarna has been designed 10 to 15 per cent of the total number affected by the condition.

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'Historic' first ever drug for Duchenne muscular dystrophy approved