Orkambi is a tablet that helps to improve the function of the CF protein that doesn’t work properly in CF (CFTR), but it only works in people carrying 2 copies of the F508del CF mutation (homozygous F508del). In this group, Orkambi improves lung function (FEV1) by a relatively modest 3%, but reduces chest infections (pulmonary exacerbations) by a more impressive 40%. Unfortunately Orkambi is not currently available in the UK for the majority of people with homozygous F508del CF because NICE decided that its health benefits did not justify the cost that Vertex are charging for this medication. https://www.nice.org.uk/guidance/ta398
Orkambi is composed of 2 compounds called Lumacaftor and Ivacaftor and Vertex are now trying to develop more effective treatments containing different compounds. The results of their most recent research trial, relating to a combination of Tezacaftor and Ivacaftor, were announced in March 2017. This combination was tested in people with homozygous F508del CF over 24 weeks and it improved FEV1 by 4% compared to placebo and also reduced pulmonary exacerbation by 35%. It was well tolerated without any significant safety concerns. http://investors.vrtx.com/releasedetail.cfm?ReleaseID=1019156
The next step in making Tezacaftor/Ivacaftor available in the UK is for Vertex to apply for it to be licensed in the EU. Once licensed, Vertex will try to get it funded. Vertex recently agreed a long-term reimbursement deal in the Republic of Ireland but it is not currently clear how it could be made available in the UK. https://www.vrtx.com/story/long-term-reimbursement-agreement-has-been-reached-republic-ireland
People with CF cared for at the West Midlands Adult CF Centre were able to participate in the trials that confirmed the effectiveness of both of these treatments (Orkambi and Tezacaftor/Ivacaftor). We are currently recruiting to the next wave of studies, aiming to develop more effective treatments. It is an exciting time to take part in CF research, because there are now several pharmaceutical companies developing CFTR modulators as well as other treatments aiming to target the basic cause of CF.