Introduction: Cystic fibrosis (CF) is the most common lethal monogenic disorder. Life expectancy is rising towards a mean of 40 years, with advances in all aspects of therapy apart from treating the basic defect. Since the discovery of the gene that causes CF, our knowledge of how mutations in this gene cause the varied pathophysiological manifestations of this disease has increased substantially.
Areas covered: This paper discusses the complexities of treatment in CF and the development of therapeutic approaches aimed at the different classes of basic mutation. Apart from gene therapy, several novel compounds have recently been discovered using high-throughput screening, which appear promising enough to develop effective drugs to cure the basic defect. This paper summarizes our current knowledge of gene and mutation-specific therapy and focuses on orally bioavailable potentiators and correctors, particularly suppressors of premature termination codons, including preclinical model systems and clinical trials in CF.
Expert opinion: The further development of these drugs will enable treatment of the basic defect in diseases such as CF, and open the door for treatment of disease according to gene sequencing: true personalized medicine.