New treatment options for cystic fibrosis
MetadataShow full item record
Cystic fibrosis (CF) is one of the most prevalent fatal autosomal recessive diseases in the United States. Although early diagnosis and improved treatment methods have helped increase the median predicted survival age of CF patients, CF remains a burdensome and life-threatening disease. Furthermore, the challenges of treating CF are amplified by the fact that there are over 1,800 known CF mutations. Recent advances in drug therapy have begun to target the main classes of CF mutations at the protein level, addressing mutational events instead of downstream disease processes. Three drugs, including ivacaftor, which has been approved by the United States Food and Drug Administration, and VX-809 and ataluren, which are still in clinical trial, have been shown to improve patient clinical measures. VX-809 targets the most prevalent CF mutation, F508del, and used in combination with ivacaftor was shown to significantly decrease mean sweat chloride concentrations and significantly increase forced expiratory volume in one second, an indicator of lung function. Almost 89 percent of people with CF have at least one copy of the F508del mutation and about 47 percent are homozygous for F508del, while ivacaftor is approved for use in only four percent of the CF population. For these reasons, if approved, use of VX-809 in combination with ivacaftor has the potential to benefit far more patients than ivacaftor ever could alone.
Thesis (M.A.)--Boston University