Hope for cystic fibrosis patients as three drugs improve symptoms

Hope for cystic fibrosis patients as ‘impressive’ three-drug trial ‘significantly’ improves lung function and more than halves flare-ups for people with the most common type

• Trikafta is combo of three drugs which targets gene responsible for the disorder
• FDA approved it after major trial showed it slashed symptoms by 63 per cent 
• Findings hailed as ’cause for celebration’ for patients with chronic, fatal illness 

Thousands of cystic fibrosis patients could have a ray of hope after a three-drug therapy was shown to improve lung function and dramatically reduce symptoms.

The treatment, called trikafta, targets a gene responsible for the life-threatening disorder in around 90 per cent of patients.  

The US Food and Drug Administration (FDA) approved the drug combination earlier this month based on the results of a landmark international study.

Led by the University of Texas, it found lung function was ‘significantly’ improved within a month and flare-ups were 63 per cent less common.

Cystic fibrosis is a debilitating illness which creates a mucus build-up in the lungs and digestive tract, which results in chronic infections and progressive damage.

Thousands of cystic fibrosis patients were given hope after a three-drug therapy was shown to improve lung function and dramatically reduce symptoms by more than half (file image)

The incurable disease affects around 70,000 people worldwide, including 3,000 in the UK. 

Most sufferers die in their 30s or 40s – and historically even lower before advances in drugs that alleviate symptoms. 

Trikafta targets the most common mutation of the CFTR gene, called Phe508del, which causes CF in the majority of patients.

It is a combination of the three already-used medications elexacaftor, tezacaftor and ivacaftor.

The landmark trial was carried out at 115 clinics in 13 countries from June 2018 to April 2019.

Some 403 patients from the age of 12 and up were randomly given trikafta or a placebo. 

Lung function in the treatment group was significantly improved at four weeks and sustained through week 24.

The number of lung flare-ups and infections was 63 per cent less common in those taking the drugs.  

WHAT IS CYSTIC FIBROSIS? 

Cystic fibrosis is an incurable genetic disease that affects around 70,000 people worldwide.

A defective gene causes a build-up of mucus in the airways, making it increasingly difficult to breathe over time.

Mucus also blocks the natural release of digestive enzymes, meaning the body does not break down food as it should.

Signs and symptoms:

• A persistent cough that produces thick mucus (sputum)
• Wheezing
• Breathlessness
• Exercise intolerance
• Repeated lung infections
• Inflamed nasal passages or a stuffy nose

While healthy people cough naturally, that does not happen for people with CF.

Eventually, lung function depletes to the point that sufferers will need a double lung transplant to survive.

Source: Cystic Fibrosis Foundation

Participants also reported higher quality of life and an easier time breathing, when asked via questionnaires. 

Excessive amounts of salt in the sweat of cystic fibrosis sufferers is a tell-tale sign of the disorder, researchers say.

They found the treatment group had a lower concentration of the mineral in their sweat.

This shows the drugs are targeting the underlying cause of the disease rather than just the breathing problems it causes, the scientists claim.

The findings, published in the New England Journal of Medicine, comes 30 years after the CFTR gene was identified.

It has been hailed as a ’cause for celebration’ by Francis Collins, the director of the National Institutes of Health who was part of the team that made the original genetic discovery. 

‘The results of a pair of phase 3 clinical trials in the Journal and in a simultaneous publication in the Lancet document impressive benefits,’ Collins wrote in an editorial for the NEJM. 

‘This should be a cause for major celebration,’ said Collins, but he added that more work was needed on patients with other forms of mutations who would not respond to the new therapy.

David Ramsden, CEO of the Cystic Fibrosis Trust, said: ‘This is another very significant day for people with CF across the UK.

‘We know that the months ahead are likely to bring both new and familiar challenges and we will not stop until everyone has access to the best drugs that exist.’ 

The latest development comes after the NHS announced it would make life-extending cystic fibrosis drugs available by next month.

Up to 5,000 patients in England will benefit from three £104,000-a-year pills after the deal with Boston-based maker Vertex.  

The deal is thought to be in excess of half a billion pounds and gives NHS England access to the medication for five years. 

All three drugs, Orkambi, Symkevi and Kalydeco, slow the decline of lung function – the main cause of death in cystic fibrosis.  

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