title: Ivacaftor improves appearance of sinus disease on computerised tomography in cystic fibrosis patients with G551D mutation.
abstract: BACKGROUND
  Most patients with Cystic fibrosis (CF) have chronic sinus disease which may require multiple sinus surgeries and antibiotic courses. Ivacaftor can improve lung function, lower sweat chloride levels and improve weight by targeting the primary defect, a faulty gene and its protein product, cystic fibrosis transmembrane conductance regulator (CFTR) in patients with the G551D mutation. Its role in improving sinus disease has not been evaluated.
  
  
  OBJECTIVE
  The objective of this study was to evaluate efficacy of ivacaftor in improving CF related sinus disease.
  
  
  METHODS
  Observational study.
  
  
  METHODS
  Twelve patients with cystic fibrosis and a G551D-CFTR mutation.
  
  
  METHODS
  Twelve patients with a G551D-CFTR mutation were monitored for at least one year before and after starting ivacaftor.
  
  
  METHODS
  Sinus disease progression was monitored by comparing computed tomography (CT) of sinuses before and at one year on therapy. Hospital admissions, pulmonary exacerbations, weight, BMI and lung function were also compared.
  
  
  RESULTS
  Median age was 17 years (range 10-44). Weight, BMI, FEV1 significantly increased and sweat chloride significantly decreased by six months on ivacaftor therapy. CT of the sinuses in all patients improved. Seven patients had severe sinus disease, improved to moderate in three and mild in remaining four. Four patients had moderate disease which improved to mild in all. One patient had normal sinus CT before and after the therapy.
  
  
  CONCLUSIONS
  Patients with CF and G551D mutation, within 6 months of starting ivacaftor had significant improvements in weight, BMI and mean % FEV1. Significant lessening of underlying sinus disease measured by CT scan was noted, suggesting a disease modifying effect.
authors.affiliation: Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Section of Pulmonary Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
authors.forename: S I
authors.initials: SI
authors.lastname: Sheikh
authors.forename: F R
authors.initials: FR
authors.lastname: Long
authors.forename: K S
authors.initials: KS
authors.lastname: McCoy
authors.forename: T
authors.initials: T
authors.lastname: Johnson
authors.forename: N A
authors.initials: NA
authors.lastname: Ryan-Wenger
authors.forename: D
authors.initials: D
authors.lastname: Hayes
mesh_terms: D000293:Adolescent; D000328:Adult; D000627:Aminophenols / Q000627:therapeutic use*; D002648:Child; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010254:Paranasal Sinus Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000209:etiology; D015363:Quinolones / Q000627:therapeutic use*; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D000627:Aminophenols; D015363:Quinolones; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C545203:ivacaftor