A study exploring the use of the oral drug ivacaftor in very young children with a CFTR gating mutation suggests there may be a window in early life where at least partial restoration of pancreatic function might be possible.
The open label single-arm study of 34 pre-school children with cystic fibrosis aged between 2 and 5 years with at least one copy of a mutation in the CFTR gene, showed that taking the oral drug twice daily for 6 months improved several markers of disease including sweat chloride levels, weight gain, and pancreatic function.
Over a quarter of the children rose above the clinical cut off for pancreatic insufficiency at least once during treatment, which the authors said was suggestive of a “window in early life where at least partial restoration of pancreatic function might be possible.”
Ivacaftor was generally well tolerated with a safety profile similar to that seen in adults, the authors reported in the study which was published in The Lancet Respiratory Medicine.
However a rise in liver enzymes in 15% of the children suggested liver function might require closer monitoring in this age range than in adults, particularly among those with a history of elevated LFTs, the authors noted.
Study leader Professor Jane Davies from the National Heart and Lung Institute at Imperial College London, London, UK said:
“This was a small trial, but we are thrilled to see these results. Ivacaftor is a potential new treatment to offer children aged 2 years and older with cystic fibrosis and a CFTR gating mutation.
“This novel therapy could substantially impact on these children’s lives, potentially opening the way to even greater progress in years to come,” she said.
In an accompanying editorial to the study Sophie Yammine and Philipp Latzin from University Children’s Hospital Bern, Bern, Switzerland and colleagues described the study as groundbreaking for cystic fibrosis care in children aged 2 to 5 years.
However they noted that the study was powered to assess adverse events and plasma concentration of ivacaftor and its metabolites.
“Any treatment effects, such as pancreatic or nutritional improvements, should be interpreted cautiously in light of the rather low power and a pragmatic study design that is without a control group” they cautioned.
The study was funded by Vertex Pharmaceuticals Incorporated.