What new treatment options are available for my patient with cystic fibrosis (CF) who has had recurrent pulmonary exacerbations requiring frequent hospitalizations?

CF is caused by gene mutations that result in deficient or dysfunctional transmembrane conductance regulator (CFTR) protein, an anion channel that is normally present in the epithelial membrane. Two FDA- approved drugs may provide new options for at least some CF patients. Ivacaftor (Kalydeco) is a CFTR protein potentiator that increases the probability that the CFTR channels are open in vitro and improves clinical outcomes in patients ≥12 years of age with at least one copy of G551D mutation, present in ~5% of CF patients (1). 

Orkambi is a combination of ivacaftor and lumacaftor – a drug that prevents intracellular destruction of CFTR –for patients with the Phe508del CFTR mutation, present in ~50% of CF patients.   Its use has been associated with fewer pulmonary exacerbations and hospitalization in patients (≥ 6 years of age) homozygous for this gene (2). Ivacaftor and Orkambi are priced at over $300,000/year and $295,000/year, respectively (http://www.nytimes.com/2015/07/03/business/orkambi-a-new-cystic-fibrosis-drug-wins-fda-approval.html?_r=0).

1. Ramsey BW, Davies J, McElvaney NG, et al. A CFTR Potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011;365:1663-1672.

2. Wainwright CE, Elborn JS, Ramsey BW, et al. Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. N Engl J Med 2015;373:220-231.

Contributed by Cynthia M. Cooper, MD, Boston, MA

What new treatment options are available for my patient with cystic fibrosis (CF) who has had recurrent pulmonary exacerbations requiring frequent hospitalizations?