The drug Ivacaftor (Kalydeco) was originally indicated for use in cystic fibrosis (CF) patients with one or two copies of the G551D variant (rs75527207) in the CFTR gene. The European Commission has approved the use of ivacaftor in patients with an expanded list of CFTR variants that all result in a defect in CFTR gating (announced in a press release by the company).
The additional variants are: G178R (rs80282562), S549N (rs121908755), S549R (rs121908757 and rs121909005), G551S (rs121909013), G1244E (rs267606723),
S1251N (rs74503330), S1255P (rs121909041) and G1349D (rs193922525).
These additional variants were approved by the FDA earlier this year, and added to the ivacaftor drug label indication section. In light of these changes, the CPIC therapeutic guidelines for ivacaftor were updated.
The variants are listed in Table 2 of the PharmGKB CFTR VIP summary - view to read more about targeting CFTR variants to treat CF.