Cystic fibrosis (CF) homozygous is a genetic disorder that affects the lungs and digestive system. CF is associated with significant mortality, morbidity, and shorter life span. Early therapy with lumacaftor and ivacaftor is known to improve the outcomes in children with CF. This study aims to examine the safety, efficacy, pharmacokinetics, and pharmacodynamics in patients children with CF.

This open-label, multicenter, two-part, phase 3 study included a total of 12 children aged 2-5 years with a confirmed diagnosis of cystic fibrosis who were homozygous for the F508del-CFTR mutation. The participating children were assigned to receive lumacaftor and ivacaftor and were divided into two parts: part A (to assess pharmacokinetics and safety) and part B (to assess safety, pharmacokinetics, pharmacodynamics, and efficacy). The primary outcomes of the study were the pharmacokinetics (part A) and safety (part B) of lumacaftor and ivacaftor.

Pharmacokinetics and safety of lumacaftor and ivacaftor were consistent with an acceptable safety profile. In part B, 98% of children had treatment-related adverse events, though most were of mild-moderate severity. Serious adverse events occurred in four children, with the most common events being pulmonary exacerbation of cystic fibrosis, constipation, and gastroenteritis.

The research concluded that lumacaftor and ivacaftor were efficacious, safe, and well-tolerated in children with CF.