Chapters authored
Overview of CFTR Modulators and Gene Therapy
Individuals with cystic fibrosis (CF) have seen a substantial change in their life expectancy since the introduction of coordinated multi-disciplinary care. This is expected to continue with the recent availability of treatment options that focus on targeting the underlying genetic defect. Two different approaches to altering the consequence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene include “genetic medicines”, in particular gene therapy, and CFTR modulator agents. Gene therapy requires further development prior to it being a treatment option because to date the best clinical outcomes are that of a reduction in the rate of lung function decline. Modulator therapies on the other hand have provided exciting results in both clinical trials and real-world settings. Potentiator agents alter dysfunctional ion channel gating and are suitable for gating mutations. Corrector agents target abnormal protein trafficking. The combination of potentiator and corrector therapy provides options for homozygotes with the commonest mutation Phe508del and for those with Phe508del and some residual function mutations. Newer modulator therapies are in continued development with progressively impressive outcomes. It is likely that future CF care will comprise of personalized strategies with the focus centered upon an individual’s specific mutations.
Part of the book: Cystic Fibrosis