Table 2 Summary of key clinical trials involving mutation-specific treatments identifierPhaseDrug(s)Patient populationKey findings /date of expected completion
GenesAge years
NCT00803205IIIAtalurenNonsense mutations≥6No difference in primary or secondary outcomes Improved FEV1 seen in subgroup
NCT00865904IIVX-809Phe508del (homozygous)≥18No significant difference observed
NCT00909532IIIIvacaftorGly551Asp (one or more allele)≥1210.4% increase in FEV1 48.7 mmol/L decrease in sweat chloride Well tolerated
NCT00909727IIIIvacaftorGly551Asp (one or more allele)6–1110.7% increase in FEV1 56-mmol·L−1 decrease in sweat chloride levels Well tolerated
NCT00953706IIIvacaftorPhe508del (homozygous)≥12No significant difference observed
NCT01225211IIVX-809 with or without ivacaftorPhe508del (one or more allele)≥18April 2013
NCT01531673IIVX-661 with or without ivacaftorPhe508del (homozygous)≥18August 2013
NCT01614457IIIIvacaftorArg117His (one or more allele)≥6July 2013
NCT01614470IIIIvacaftorNon-Gly551Asp gating mutations (G178R, S549N, S549R, G551S, G970R, G1244E, S1251N, S1255P and G1349D)≥6February 2014
NCT01705145IIIIvacaftorAny gating mutation2–5October 2013