Practice Therapeutics

Ivacaftor for cystic fibrosis

BMJ 2018; 361 doi: https://doi.org/10.1136/bmj.k1783 (Published 17 May 2018) Cite this as: BMJ 2018;361:k1783
  1. Peter J Barry, consultant physician1 2,
  2. Anna L Donaldson, specialist registrar3 4,
  3. Andrew M Jones, consultant physician1 2
  1. 1Manchester Adult Cystic Fibrosis Centre, Wythenshawe Hospital, Manchester University Hospitals NHS Foundation Trust, M23 9LT, UK
  2. 2Division of Infection, Immunity and Respiratory Medicine, Faculty of Biology, Medicine and Health, University of Manchester
  3. 3Health Education North West, Regatta Place, Brunswick Business Park, Liverpool L3 4BL, UK
  4. 4Department of Public Health and Policy, The Farr Institute, University of Liverpool, Liverpool L69 3GL
  1. Correspondence to: A M Jones andrew.jones{at}mft.nhs.uk

What you need to know

  • Ivacaftor addresses the underlying basic defect in cystic fibrosis and is licensed for use in patients with specific gating mutations

  • Ivacaftor is prescribed through accredited specialist cystic fibrosis centres, and annual monitoring for symptoms and liver function is advised

  • Drug interactions are important and common and can include foods such as Seville oranges. This needs consideration when prescribing new medications for patients taking ivacaftor

A 33 year old man with cystic fibrosis has come to discuss a new therapy for which he is eligible because of his genotype Phe508del/Gly551Asp. He has moderate lung function impairment with a forced expiratory volume in one second (FEV1) of 67% of predicted, which has declined from 85% over the preceding five years. During this period, he has noted an increased requirement for intravenous antibiotics (two or three courses a year). In addition, he has pancreatic insufficiency, malnutrition (body mass index 17.5), recurrent constipation, and arthropathy which is disabling and worsens during periods of ill health. The patient is started on ivacaftor. Within a few days of starting therapy, he has noted an improvement in all his symptoms. His sputum has become easier to expectorate and is less in volume. Lung function measured at one month has increased by 15% over his baseline value.

Cystic fibrosis is an autosomal recessive genetic disorder affecting approximately 10 000 people in the UK and 30 000 in the US.12 Dysfunction or absence of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, an anion channel that sits on epithelial cell surfaces, leads to the clinical syndrome of cystic fibrosis. The most common and serious consequences are pulmonary disease, which is almost universal, and exocrine pancreatic insufficiency, which affects approximately 85% of patients).12 There is progressive decline in lung function punctuated by acute episodes with increased cough …

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