Evaluation of the effect of CFTR modulator therapy on lipid profiles in children.

BACKGROUND

Cystic fibrosis (CF) results from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, causing multisystem disease and impaired quality of life. CFTR modulators have improved pulmonary and nutritional outcomes, yet potential metabolic effects such as dyslipidemia remain a concern, particularly in adults. Pediatric data are limited. This study evaluated the effects of CFTR modulators on lipid and lipoprotein profiles in children with CF.

METHODS

This retrospective study was conducted at a tertiary pediatric pulmonology center. Body mass index (BMI) Z-scores, lung function tests, and serum lipid profiles were compared between baseline and six months after initiation of CFTR modulator therapy.

RESULTS

Twenty-six patients were included finally. The median age was 11 (5.9-15.6) years; 53.8% were female, and 80.8% received elexacaftor/tezacaftor/ivacaftor. After six-month therapy, significant improvements were observed in BMI (p = 0.047), FEV₁ (p = 0.005), and FVC Z-scores (p = 0.001). Although HDL, LDL, VLDL, triglycerides, and total cholesterol increased numerically, none reached statistical significance. No difference was found between BMI changes and lipid alterations.

CONCLUSION

Over six months of continuous CFTR modulator therapy, we observed improvements in pulmonary and nutritional outcomes without evidence of clinically meaningful lipid deterioration.

IMPACT: This study adds real-world pediatric data regarding lipid profile changes during CFTR modulator therapy. While these therapies significantly improve pulmonary and nutritional outcomes, we observed no evidence of lipid deterioration over six months of treatment. These findings contribute to the evolving understanding of the systemic effects of CFTR modulators in childhood and underscore the importance of ongoing cardiometabolic evaluation as survival improves.