A combination of three medicines could significantly improve treatment outcomes for young children with cystic fibrosis. Researchers have found that the therapy can restore the function of defective molecular channels to almost normal levels, with younger patients showing particularly strong responses.

The findings, published in the European Respiratory Journal, provide further evidence of the potential benefits of starting treatment early in childhood.

How Triple Therapy Works

Cystic fibrosis is an inherited condition that primarily affects the lungs, digestive system and other parts of the body. It develops when mutations in the CFTR gene disrupt the movement of salt and water across cell membranes.

This disruption causes mucus to become unusually thick and sticky, increasing the risk of respiratory infections, breathing difficulties and digestive complications.

Triple therapy combines three active ingredients: elexacaftor, tezacaftor and ivacaftor. Together, these medicines improve the function of the defective CFTR protein, helping restore the movement of chloride ions across cell membranes.

The treatment was first approved in 2019, with eligibility subsequently expanded to younger children. Previous research has demonstrated substantial improvements in lung function and other important health outcomes.

Researchers Study 26 Children

Scientists at Charité – Universitätsmedizin Berlin investigated the effects of triple therapy in 26 children aged between two and 11. All participants had at least one copy of the F508del mutation, one of the most common genetic variants associated with cystic fibrosis.

The researchers assessed lung function, sweat chloride levels and nutritional indicators before treatment and again after four months.

They also collected small samples of intestinal tissue to measure how effectively the CFTR protein transported chloride ions across cell membranes.

This approach allowed the scientists to examine the treatment's effects directly at the cellular level.

Cell Function Reaches 90–100%

The results showed that triple therapy restored CFTR channel function in intestinal tissue to approximately 90–100% of normal levels. This was substantially higher than the roughly 50% restoration previously observed in studies involving adolescents and adults.

Professor Marcus Mall, director of paediatric respiratory medicine at Charité, explained that the research team had been surprised by how closely the treated children's results resembled those of children without cystic fibrosis.

He described the findings as encouraging evidence of the treatment's effectiveness in younger patients. The researchers also observed an association between age and treatment response, with younger children generally showing greater improvements.

Why Early Treatment Matters

The findings suggest that starting treatment during early childhood could provide important long-term advantages.

Dr Simon Gräber, who leads a research group specialising in precision medicine for cystic fibrosis, explained that beginning therapy earlier could help prevent progressive damage, particularly in the lungs, before irreversible changes occur.

Previous studies have already demonstrated improvements in lung function and lung tissue abnormalities among children receiving triple therapy.

The latest findings offer a possible biological explanation for these benefits by demonstrating how effectively the medication restores CFTR activity.

What Happens Next?

Despite the promising results, cystic fibrosis remains a lifelong genetic condition, and triple therapy is not a cure. The study involved a relatively small group of children, and the near-normal results were measured in intestinal tissue. Further research is needed to establish whether these improvements lead to lasting protection throughout the body.

The scientists plan to investigate individual mucosal cells to gain a clearer understanding of the treatment's molecular effects.

They also hope to explore whether starting therapy as early as one year of age could provide additional benefits, subject to further research and regulatory approval.

The findings strengthen the evidence supporting early intervention and offer hope that children with cystic fibrosis may experience fewer complications and better health throughout their lives.