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CPIC® Guideline for Ivacaftor and CFTR

Most recent guideline publication:

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Ivacaftor Therapy in the Context of CFTR Genotype (March 2014)

Updates since publication:

May 2017: The FDA approved drug label for ivacaftor has been updated to include an additional 23 variants (see the label for the full list).  The CPIC guideline supplement and CFTR Allele Definition Table have been updated to include the additional variants.  These variants are not discussed in the 2014 guideline publication.

April 2014: After the submission and review of the CPIC guideline manuscript, the FDA-approved drug label for ivacaftor was updated to include additional variants. In light of these changes, the CPIC guideline supplement has been updated to include additional CFTR variants, specifically G1244E (rs267606723), G1349D (rs193922525), G178R (rs80282562), G551S (rs121909013), S1251N (rs74503330), S1255P (rs121909041), S549N (rs121908755) and S549R (rs121908757 and rs121909005). These variants are not discussed in the 2014 guideline publication.

Tables and figure provided in the main manuscript of the guideline:

Table 1. CFTR variant classes and strategies to restore function
Table 2. Prescribing ivacaftor based on CFTR genotype for patients with cystic fibrosis
Figure 1. Treatment algorithm for clinical use of ivacaftor for cystic fibrosis patients based on CFTR genotype

Supplement to: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Ivacaftor Therapy in the Context of CFTR Genotype (March 2014)

Tables included in the supplementa:

Supplemental Table S1. Common CFTR Variants and Class For an updated version of this table see the CFTR allele definition table .
Supplemental Table S2. Frequencies of alleles in Cystic Fibrosis patients by major race/ethnic groups
Supplemental Table S3. CFTR minor allele frequencies in cystic fibrosis patients
Supplemental Table S4. Evidence linking CFTR genotype with Ivacaftor efficacy

aSome of the tables included in the guideline may have been updated on-line, particularly to reflect newly described or newly characterized alleles. These include the gene-specific information tables (https://www.pharmgkb.org/page/pgxGeneRef) that support CPIC guidelines by providing information regarding star (*) allele definitions, allele function, allele frequency by major ethnic groups, translations of diplotype to phenotype, and gene resource mappings.

Additional resource applicable to this guideline:

Drug resource mapping

Gene resource mapping