An Update on In Utero Gene Therapy for Cystic Fibrosis

Abstract

Cystic fibrosis (CF) is an inherited, chronic disease caused by a gene mutation that leads to a malfunctioning CF transmembrane regulator (CFTR) protein channel in cells. The life expectancy for individuals with CF has continually increased in recent decades, but is still only around 40 years of age. Current treatment guidelines call for a focus on symptom management and complication reduction. New advances in scientific research with regard to prenatal screening, viral vectors for gene therapy, and CFTR-correcting treatments are making in utero gene therapy a possibility for the first time. In utero gene therapy would allow for an early correction of the gene mutation, preventing the subsequent complications in the development of the fetus and creating the opportunity for a cure for CF as opposed to only symptomatic treatment. In this article, we review recent developments in CF gene therapy and detail the current state of the science of CF screening as well as treatment.