Drug and gene therapy offer hope for CF sufferers

The Government has been urged to assess a new drug that treats the underlying cause of cystic fibrosis.

The drug, Orkambi, has already been approved by medical authorities in the US after it was shown to improve lung function and reduce worsening of the condition by almost 40%.

It has to be approved by the European Medicines Agency and the HSE.

The US approval comes as CF sufferers have been offered new hope with another gene therapy that also improves lung function.

“We have evidence that Orkambi has had life-changing effects for people on clinical trials who have been in contact with us and who have reported a significant increase in quality of life,” said Philip Watt, CEO of Cystic Fibrosis Ireland.

“We would urge the European Medicines Agency and Irish Government to assess this drug as soon as possible.”

In Britain, scientists conducting a major trial of a therapy that replaces the faulty gene responsible for CF say the treatment has shown significant benefit for the first time in patients’ lung function.

“Patients who received the gene therapy showed a significant, if modest, benefit in tests of lung function compared with the placebo group,” said Eric Alton, a professor at Imperial College London who led the trial.

The lungs of patients that did not take the gene therapy showed a decline of 3% to 4% on average over the same period. The technique replaces the defective gene behind the inherited disease by using inhaled molecules of DNA to deliver a normal working copy of the gene to lung cells.

Dr Alton said the results were “encouraging” but cautioned that because the effect was inconsistent, the therapy was not ready for regular clinical use.

CF is the world’s most common lethal inherited disease, affecting more than 90,000 people globally. Ireland has by far the highest incidence of cystic fibrosis in Europe. Irish people are statistically the most likely to receive the faulty gene that causes it, with an average of one in 19 people carrying it.

CF causes the lungs to become filled with thick, sticky mucus and patients are vulnerable to recurrent chest infections, which eventually destroy the lungs. Average life expectancy is 41.

In the gene therapy trial, results of which are published in The Lancet Respiratory Medicine journal, 136 CF patients aged 12 and over received monthly doses of either the gene therapy or a placebo for one year.

Alton said his team is now planning follow-up studies to look at whether higher, more frequent doses might have a greater benefit, and to test ways of combining the gene therapy with drug treatments to potentially boost its effect. Patients who received therapy had significant, if modest, benefit in lung function, making the trial the first in the world to show that repeated doses of gene therapy can have a meaningful effect on the disease.

Speaking yesterday on RTÉ radio, Professor Deborah Gill, co-author of trial, said the treatment could be life-changing for patients.

“The particular good thing about gene therapy is it doesn’t matter what kind of mutation you have,” she said.


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