Therapies directed at the basic defect in cystic fibrosis

There are over 600 unique mutations in the cystic fibrosis (CF) gene that can be classified in five general categories with respect to specific defect. Through basic research into the genetic and physiologic consequences of these mutations, it has become possible to design genotype-specific therapeutic strategies. New pharmaceutical agents are under development for the rescue of defective cystic fibrosis transmembrane conductance regulator mRNA or protein. Some of these compounds are undergoing study in CF patients in Phase I clinical trials. This article evaluates the current research directed at translating a basic molecular understanding of the disease into innovative new treatments.