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cystic fibrosis


A new therapy could profoundly improve cystic fibrosis patients’ quality of life, say doctors.

Patients suffering from cystic fibrosis often die before their 40s as mucus clogs and damages their lungs and leaves them prone to infection.

A major international trial on 1,108 patients, in the New England Journal of Medicine, showed a combination of drugs could bypass the genetic errors that cause the disease and may increase life expectancy.

Errors in sufferers’ DNA – inherited from their parents – damage the microscopic machinery that controls salt and water levels in the linings of the lungs.Cystic fibrosis new therapy

The result is a thick mucus that inexorably damages the lungs.

Antibiotics help prevent infection and drugs can loosen the mucus, but nothing deals with the fundamental problem for most patients.

The combination of drugs – lumacaftor and ivacaftor – were designed to repair that microscopic machinery.

The trial showed that those patients given the cocktail for 24 weeks had better lung function.

Cystic fibrosis also affects the mucus lining in the gut so the doctors were pleased to see the patients also gained weight in the trial.

There are however, many types of error in the DNA that can culminate in cystic fibrosis.

This treatment combination should work on around half of patients, while one of the drugs on its own corrects a small proportion of errors.

New treatments are still required for the remaining patients.

The therapy is being examined by regulators around the world.

In a video posted online, Valentina Maureira, a 14-year-old Chilean girl, is asking President Michelle Bachelet to allow her to die.

The video has been viewed by thousands of people since the girl posted it.

Valentina Maureira suffers from cystic fibrosis, an incurable genetic disorder that attacks the lungs and other organs.

President Michelle Bachelet responded by visiting Valentina in hospital.

Her spokesman said Valentina Maureira could not be granted her wish but the government would pay for psychiatric treatment.Valentina Maureira President Michelle Bachelet

Valentina Maureira’s message has been viewed thousands of times on social networks, fuelling the debate in Chile over euthanasia, which is forbidden by law.

“I asked to speak urgently with the president, because I am tired of living with this disease,” the girl said.

She also said she had an older brother who died of the same illness when he was six years old so she knew what would happen to her.

Valentina Maureira’s father Fredy is supporting his daughter’s demand.

“This is so tough, but I have to respect her decision because she’s the one who’s suffering this illness,” AP quoted Fredy Maureira as saying.

Cystic fibrosis attacks the lungs and makes it difficult to breathe, among other symptoms.

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