Pill daje nową nadzieję chorym na mukowiscydozę…

by Marek | 13 grudnia 2015 16:27

Pill gives fresh hope to cystic fibrosis victims…and tackles the cause of the genetic disease rather than just relieving its symptoms



By MARTYN HALLE FOR THE MAIL ON SUNDAY

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Orkambi is a combination of two drugs that tackle the cause of the genetic disease rather than just relieving its symptoms.

Cystic fibrosis (CF) causes the lungs and digestive system to become clogged with thick, sticky mucus, and a transplant may be necessary if the lungs become extensively damaged. The average life expectancy of sufferers is 41.

Orkambi is a combination of two drugs that tackle the cause of the genetic disease rather than just relieving its symptoms

Orkambi is a combination of two drugs that tackle the cause of the genetic disease rather than just relieving its symptoms

The new twice-a-day tablet works by thinning the mucus, preventing damage and allowing the lungs to heal.

Experts say that while Orkambi is not a cure for CF, the treatment could allow many patients to lead near-normal lives without the need for a transplant.

Orkambi was licensed for UK use last month, and watchdog the National Institute for Health and Care Excellence (NICE) is now considering the case for it to be made available on the NHS. A decision is due next July.

Professor Stuart Elborn, a respiratory consultant who trialled the new drug at Queen’s University in Belfast, says: ‚These two new treatments are game-changers. We are now seeing CF becoming a chronic disease that you live with instead of one that takes your life.’

About 10,000 Britons have CF, and they are the single largest group needing a lung transplant.snap_001[8]

Orkambi works to correct a faulty gene, known as the cystic fibrosis transmembrane conductance regulator (CFTR). The gene normally creates a protein that moves salt and water out of a cell, but when these proteins are missing or defective, a sticky mucus builds up in the lungs, causing infection, breathing difficulties and loss of lung function.

Orkambi works by allowing the protein within the cells to rise to the surface to move salt in and out of the cell, keeping a healthy balance of salt and water in the lungs and other organs. Research has shown that it reduces outbreaks of infection, and can cut the number of hospital admissions by more than 60 per cent.

Trials involving 1,100 CF patients in Europe, the United States and Australia found lung function improved after 24 weeks in all patients taking Orkambi.

Cystic fibrosis (CF) causes the lungs and digestive system to become clogged with thick, sticky mucus, and a transplant may be necessary if the lungs become extensively damaged

Cystic fibrosis (CF) causes the lungs and digestive system to become clogged with thick, sticky mucus, and a transplant may be necessary if the lungs become extensively damaged

Three years ago, mother-of-one and CF patient Carly Jeavons was struggling to breathe because her lung function measured just 44 per cent. Despite taking 90 tablets and doing two hours of physiotherapy every day, her health was declining dramatically.

In March 2014 she started taking Orkambi with impressive results. She has stopped taking insulin for her CF-related diabetes, and medication for her digestion, and has suffered fewer of the potentially deadly infections caused by the disease.

‚I have a zest for life like never before because my CF doesn’t get in the way any more,’ says Carly, 28, from Dudley, West Midlands.

Although it could prove effective for up to half of people with CF, Orkambi is not cheap. In the US, where it was licensed by the Food and Drug Administration in July, it costs $710 (about £470) per patient per day, though the European price is likely to be lower.

The Cystic Fibrosis Trust has called on NICE to look beyond the usual 24-week clinical trials data when making decisions on the efficacy of drugs such Orkambi.snap_001[8]

‚Twenty-four weeks cannot provide an accurate assessment of new treatments such as Orkambi, which offer long term preventative stabilisation of CF,’ said a spokesman. ‚We need the NHS to give clinicians and patients time to assess how new precision medicines might slow the decline of the disease. This is a once-in- a-generation opportunity.’


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Endnotes:
  1. [Image]: http://www.dailymail.co.uk/health/article-3357455/Pill-gives-fresh-hope-cystic-fibrosis-victims-tackles-cause-genetic-disease-just-relieving-symptoms.html
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  8. [Image]: http://www.dailymail.co.uk/health/article-3357455/Pill-gives-fresh-hope-cystic-fibrosis-victims-tackles-cause-genetic-disease-just-relieving-symptoms.html

Source URL: http://www.mati-szostak.pl/2015/12/13/pill-daje-nowa-nadzieje-chorym-na-mukowiscydoze/