Since identification of the CFTR gene over 25 years ago, gene therapy for cystic fibrosis (CF) has been actively developed. More recently gene therapy has been joined by other forms of “genetic medicines” including mRNA delivery, as well as genome…
October 2016
The Remaining Barriers to Normalcy in Cystic Fibrosis II
Gastroenterological endpoints in drug trials for cystic fibrosis
The phenotype of cystic fibrosis includes a wide variety of clinical and biochemical gastrointestinal presentations. These gastrointestinal characteristics of the disease have come under renewed interest as potential outcome measures and clinical endpoints for therapeutic trials in cystic…
Individualized medicine using intestinal responses to CFTR potentiators and correctors
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators that target the mutant CFTR protein are being introduced for treatment of cystic fibrosis. Stratification of subjects based on their CFTR genotype has been proven essential to demonstrate clinical efficacy of…
The CF gastrointestinal microbiome: Structure and clinical impact
The gastrointestinal (GI) microbiome is shaped by host diet, immunity, and other physicochemical characteristics of the GI tract, and perturbations such as antibiotic treatments can lead to persistent changes in microbial constituency and function. These GI microbes also…
Novel insights into the diagnostic and therapeutic challenges of the CFTR metabolic syndrome/CF screen positive indeterminate diagnosis
The growth of cystic fibrosis newborn screening (CF NBS) has led to an increased number of infants with a positive NBS test but inconclusive CF diagnostic testing. In the USA this condition is called CFTR related metabolic syndrome…
Early detection and sensitive monitoring of CF lung disease: Prospects of improved and safer imaging
Recent imaging studies using chest computed tomography (CT) in presymptomatic infants and young children with cystic fibrosis (CF) diagnosed by newborn screening presented compelling evidence of early onset and progression of structural lung damage in CF. These data…
Therapeutic challenges posed by critical drug–drug interactions in cystic fibrosis
This review seeks to re‐introduce cystic fibrosis (CF) clinicians to the pharmacology of drug–drug interactions among medications commonly used in CF and provide a framework for understanding these interactions among medications outside the scope of this discussion. We…
Maintaining mental health and function for the long run in cystic fibrosis
Research shows that individuals with cystic fibrosis (CF) and their families experience significant emotional morbidity. In addition to distress, worry, and grief, high rates of clinically significant symptoms of depression and anxiety have been found in both individuals…