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Lumacaftor + Ivacaftor (Efficacy)

The LUM/IVA is a combination of lumacaftor and ivacaftor and acts as a cystic fibrosis transmembrane conductance regulator (CFTR) enhancer. LUM/IVA is indicated for the treatment of cystic fibrosis (CF) in patients over 6 years of age that are homozygous for the F508del mutation of the CFTR gene. If a patient's genotype is unknown, mutational CF analysis should be performed as recommended by the Food and Drug Administration (FDA).

In in vitro studies, lumacaftor increases the amount of functional protein on the surface of the epithelial cell, apparently by partial correction of the folding defect of the protein that conditions the F508del mutation, avoiding the premature degradation of the same before completing its transport until the apical surface of the epithelial cell. Ivacaftor increases the channel opening time through the action of the protein present on the apical surface of the epithelial cell. Together, this translates into an increase in chlorine transport. However, the exact mechanism by which both drugs achieve this effect is unknown.

BRAND NAME:

Orkambi®

Gene or region studied

  • CFTR
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