What is Cystic Fibrosis?
Cystic fibrosis is an inherited genetic condition that affects the ability of cells to control the movement of salt and water between one another, due to the impaired plasma membrane. The faulty movements cause a build-up of sticky mucus on the lungs and digestive system resulting in problems with breathing and vulnerability to infection. The disease of the membrane results in an accumulation of ions within the cell. The autosomal recessive genetic disease is caused by various mutations in the CFTR gene (cystic fibrosis transmembrane conductance regulator) which is located on chromosome 7. The CFTR gene provides synthesis instructions to make the CFTR protein. Normally the protein will transport chloride ions out of the cell by active transport. When in mutated form, the tertiary structure is altered and CFTR is unable to carry out its normal function in maintaining a thin water layer above cells in the lung epithelium thus mucus builds up. The absent water layer means mucus cannot be cleared and therefore it becomes infected by bacteria and oxygen cannot get into the blood efficiently.
Treatment of cystic fibrosis for years has consisted of treatment of the symptoms, not the cause. Vertex Pharmaceuticals has introduced Orkambi, the second drug to be licenced for people with cystic fibrosis in the UK, following Kalydeco. Treating the F508 deletion mutation with a combined medicine (ivacaftor and lumacaftor.) Orkambi is currently not available through the NHS however, due to its rejection by NICE (National Institute for Health and Care Excellence.) NICE have approved of the drug being effective but have rejected the use of the drug due to its review of cost-effectiveness. It can be prescribed to those who meet certain criteria through Vertex Pharmaceuticals.
You may have some questions about the drug as I sure did. Are there side effects? Well yes. Nausea, shortness of breath, rash, diarrhea and hearing problems. How does it work? Ivacaftor is used to improve the activity of the CFTR protein and lumacaftor is used for improving protein folding of CFTR. The drug was FDA approved in July 2015 available to adults, pre-teens and children of certain ages.
Vertex has put a patent on the drug preventing other companies to make a drug like Orkambi, however the drug was not patented in Argentina. Therefore, buyers are getting the drug from Gador, an Argentinian company. More than 10,000 people in the UK suffer with cystic fibrosis, and very few can access the drug on compassionate grounds. Current medications for sufferers consist of large amounts of medications needing to be taken throughout the day. Vertex Pharmaceuticals and negotiating with NHS England whilst petitions continue across the country to make Orkambi available to all sufferers in the UK.