Introduction Cystic fibrosis (CF) is a life-limiting genetic disease, resulting from abnormalities in the CF transmembrane conductance regulator (CFTR), a chloride channel found in cells of various organs. There are over 2000 known disease-causing mutations that interrupt various stages of CFTR synthesis and function. Gene therapy is being developed as a novel treatment for CF. Ivacaftor (Kalydeco) and Orkambi (Lumacaftor/Ivacaftor) are the first two medications licensed in the world for CF patients. Ivacaftor (Kalydeco) is a potentiator for the CFTR protein at the surface of epithelial cells, is licensed and funded in the UK for patients above 2y and is effective for CFTR gating mutations. Lumacaftor is a corrector and acts as a chaperone during protein folding and increases the number of CFTR proteins that are trafficked to the cell surface. Orkambi is a combination of Ivacaftor and lumacaftor, licensed for patients homozygous for DF508, above 6y and funded in some European countries/Australia/US, but not in the UK.
Case 6.5 years old girl diagnosed with CF via new-born screening (homozygous for DF508). She has minimal respiratory symptoms with normal lung function. No hospital admissions,nor recurrent chest infections. The family contacted a US CF centre with the aim to move her care and start Orkambi. They elected to purchase Orkambi privately and remain in the UK. They could afford the first 3 month prescription but are now considering re- mortgaging their house to fund on-going therapy. 3w ago, was started on her 1st dose of Orkambi. Soon after, she observed bloody stools. She attended casualty: clinical examination and baseline work up were normal.
How should the medical CF team counsel families who would like to privately purchase Orkambi?
How should we monitor these patients ?
What do we think as professionals about parents driving treatment decisions?
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