Ivacaftor for Cystic Fibrosis and the G551D-CFTR Mutation
Ivacaftor for Cystic Fibrosis and the G551D-CFTR Mutation
Since the identification of the CFTR gene in 1989, there has been a focused effort on developing therapies to correct the defective gene or minimize its impact. Although this drug targets only 4% of the CF population, those with the G551D mutation, ivacaftor represents the first product approved by the FDA that improves defective CFTR function and ushers in a new era for the treatment of children and adults with CF. In addition to improved pulmonary function test results, ivacaftor has produced significant improvement in weight gain and patient assessment of respiratory symptoms. It has also led to fewer pulmonary exacerbations and a reduction in sweat chloride values to below the diagnostic threshold in many patients. Much more work is underway in this field, including trials of ivacaftor in children less than 6 years of age and studies of CFTR potentiators or correctors targeted at other mutations.
Summary
Since the identification of the CFTR gene in 1989, there has been a focused effort on developing therapies to correct the defective gene or minimize its impact. Although this drug targets only 4% of the CF population, those with the G551D mutation, ivacaftor represents the first product approved by the FDA that improves defective CFTR function and ushers in a new era for the treatment of children and adults with CF. In addition to improved pulmonary function test results, ivacaftor has produced significant improvement in weight gain and patient assessment of respiratory symptoms. It has also led to fewer pulmonary exacerbations and a reduction in sweat chloride values to below the diagnostic threshold in many patients. Much more work is underway in this field, including trials of ivacaftor in children less than 6 years of age and studies of CFTR potentiators or correctors targeted at other mutations.
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