Ivacaftor is a small-molecule potentiator of the cystic fibrosis (CF) transmembrane-conductance regulator and was recently approved for use in CF patients with at least one copy of the G551D mutation. Two clinical trials have proven its efficacy in CF patients 6 years of age and older with mild-to-moderate lung disease. In this article, we report the efficacy of ivacaftor in a 12-year-old CF patient with very severe lung disease and clinical features of cepacia syndrome.
Get full access to this article
View all access options for this article.
References
1.
RowntreeRK, HarrisA. The phenotypic consequences of CFTR mutations. Ann Hum Genet, 2003; 67:471–485.
2.
GibsonRL, BurnsJL, RamseyBW. Pathophysiology and management of pulmonary infections in cystic fibrosis. Am J Respir Crit Care Med, 2003; 168:918–951.
3.
AccursoFJ, RoweSM, ClancyJP, BoyleMP, DunitzJM, DuriePR, SagelSD, HornickDB, KonstanMW, DonaldsonSH, MossRB, PilewskiJM, RubensteinRC, UluerAZ, AitkenML, FreedmanSD, RoseLM, Mayer-HamblettN, DongQ, ZhaJ, StoneAJ, OlsonER, OrdonezCL, CampbellPW, AshlockMA, RamseyBW. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med, 2010; 363:1991–2003.
4.
RamseyBW, DaviesJ, McElvaneyNG, TullisE, BellSC, DrevinekP, GrieseM, McKoneEF, WainwrightCE, KonstanMW, MossR, RatjenF, Sermet-GaudelusI, RoweSM, DongQ, RodriguezS, YenK, OrdonezC, ElbornJS. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med, 2011; 365:1663–1672.
5.
DavisPB, YasothanU, KirkpatrickP. Ivacaftor. Nat Rev Drug Discov, 2012; 11:349–350.
FlumePA, LiouTG, BorowitzDS, LiH, YenK, OrdonezCL, GellerDE. Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest, 2012; 142:718–724.
8.
IslesA, MacluskyI, CoreyM, GoldR, ProberC, FlemingP, LevisonH. Pseudomonas cepacia infection in cystic fibrosis: an emerging problem. J Pediatr, 1984; 104:206–210.
