Simple powder to beat 2,400 genetic diseases goes on sale in two years



Health breakthrough: Scientists hope a new powdered drug will treat genetic conditions such as muscular dystrophy suffered by physicist Stephen Hawking



A powdered drug which eases the symptoms of incurable genetic diseases could be on sale within two years, researchers say.

They hope it could treat 2,400 conditions, including some types of cystic fibrosis and Duchenne muscular dystrophy, as well as the blood clotting disease haemophilia.

Many inherited diseases are caused by mutations in genes which stop cells from making vital proteins.

The new drug - known only as PTC124 - makes cells less sensitive to these mutations.

Given early enough, PTC124 could even halt the progress of some genetic illnesses - many of which are incurable.

The drug comes as a vanilla-flavoured powder to make it easier for patients to take.

This would be dissolved in water, milk or juice and taken with meals.

Researcher Dr Stuart Peltz said that there were many serious inherited diseases for which there is currently no effective treatment.

'We hope to be able to bring this to market not only quickly for cystic fibrosis but over time to many different patients with many different diseases for which there is no treatment,' he added.

In cystic fibrosis, a mutation stops the body producing a protein called CTFR.

Its absence causes the body's fluids to become abnormally thick and sticky, causing breathing and digestive problems.

In tests on patients, PTC124 boosted production of the protein and improved breathing, the British Society for Human Genetics conference will hear today.

It is thought that PTC124 could help 10 per cent of the 8,000 cystic fibrosis sufferers in Britain.

More trials are due to start soon. Tests on youngsters with Duchenne muscular dystrophy, which affects 100 babies a year in the UK, have also been promising.

In mice, the drug repaired muscle mass lost to the degenerative disease and it is hoped that PTC124 could help 13 per cent of human sufferers.

In all, the drug has the potential to treat 2,400 diseases - proving effective for between five and 70 per cent of those suffering from each condition.

Dr Peltz, of PTC Therapeutics, said: 'The difference between this and other drugs is it doesn't [just] treat the symptoms, it treats the underlying cause.

'The drug allows the body to make the lost protein.'

It is hoped the drug, which would have to be taken every day for life, could be on the market by 2010.

PTC124 researcher Dr Lee Sweeney, of the University of Pennsylvania, said: 'This new class of treatment has the potential to help a large number of patients with different genetic diseases that have the same type of mutation.'

Dr Marita Pohlschmidt of the Muscular Dystrophy Campaign said: 'PTC124 has previously shown encouraging results in clinical trials for Duchenne muscular dystrophy.

'However, as the drug applies to boys with a specific mutation, only 10-15 per cent of the 2,000 boys living with the condition in the UK might be treated.'

Muscular dystrophy patients and their carers are being failed by the NHS, the charity added yesterday.

A survey of 850 patients found that half do not have access to a specialist consultant and many had to pay for their own wheelchairs.

'Nonsense mutations'

Between five and 15 per cent of inherited diseases are caused by 'nonsense mutations' - subtle, but potentially devastating, spelling mistakes in DNA.



Cells in the body contain machinery that 'reads' lines of DNA and uses the information to create proteins.



However, a nonsense mutation sends out a rogue 'stop' signal before a cell has finished making a protein. The resulting half-finished protein is useless.



The drug PTC124 works by over-riding the nonsense mutation's stop signal - and letting the cell complete its job.

