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A multicenter evaluation of sweat chloride concentration and variation in infants with cystic fibrosis

V A LeGrys1, T C Moon1, J Laux2

  • 1Division of Clinical Laboratory Science, University of North Carolina School of Medicine, Chapel Hill, NC, United States.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|December 26, 2018
PubMed

Insights

This study found that sweat chloride concentrations in infants with cystic fibrosis (CF) show minimal variation during the first year of life. These findings are crucial for designing future clinical trials for CFTR modulators in young patients.

Area of Science:

  • Pediatric medicine
  • Genetic disorders
  • Biochemistry

Background:

  • Cystic fibrosis (CF) is a genetic disorder affecting multiple organs.
  • Sweat chloride concentration is a key diagnostic marker for CF.
  • Understanding variability in infants is essential for therapeutic development.

Purpose of the Study:

  • To determine biological and analytical variation in sweat chloride concentrations in infants with CF.
  • To assess changes in sweat chloride concentrations during the first year of life.
  • To inform the design of clinical trials for CFTR modulators in pediatric populations.

Main Methods:

  • Analysis of sweat chloride concentrations in 59 infants with CF.
  • Focus on 32 infants homozygous for the F508 deletion mutation.
  • Comparison of early and late infancy measurements.

Main Results:

  • Biological and analytical variation in infant sweat chloride was similar to adult CF patients.
  • A statistically significant, but not clinically significant, increase in sweat chloride was observed from early to late infancy.
  • Sweat chloride concentrations do not change meaningfully in the first year of life.

Conclusions:

  • Sweat chloride concentrations are relatively stable during the first year of life in infants with CF.
  • This stability supports the feasibility of using sweat chloride as a biomarker in early-phase clinical trials.
  • Establishing infant variability is a prerequisite for developing targeted CFTR modulator therapies for younger populations.

Keywords:
Analytical variationBiological variationCystic fibrosisIndex of individualityReference change valueSweat chloride

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