title: Year to year change in FEV1in patients with cystic fibrosis and different mutation classes.
abstract: In patients with cystic fibrosis, most treatments addressing the underlying basic defect are mutation or mutation class specific. These treatments are disease modifying if they lower the year to year change in lung function. We therefore calculated the current loss of lung function, measured by year to year change in forced expired volume in 1s in 11,417 patients included in the European Cystic Fibrosis Society Patient Registry. Whereas patients with at least one mutation of class IV or V have on average a lower year to year change, we did not find a difference between patients with a stop codon mutation, homozygous for F508del or at least one class III mutation. These data are useful background information to discuss the impact of different disease modifying treatments.
authors.affiliation: Department of Pediatrics, University of Leuven, Belgium; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address: christiane.deboeck@uz.kuleuven.ac.be.
authors.forename: K
authors.initials: K
authors.lastname: De Boeck
authors.affiliation: Department of Pediatrics, University of Leuven, Belgium; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Zolin
mesh_terms: D000328:Adult; D018388:Codon, Terminator / Q000235:genetics; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005541:Forced Expiratory Volume; D014644:Genetic Variation; D006720:Homozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D009154:Mutation; D012042:Registries / Q000706:statistics & numerical data; D012129:Respiratory Function Tests
chemical_list: D018388:Codon, Terminator; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: Age distribution; Cystic fibrosis; Lung function; Mutation class