Study confirms the effectiveness of cystic fibrosis therapy in toddlers

Therapy options for those affected by cystic fibrosis have improved enormously in recent years, and the effectiveness of the triple therapy consisting of Elexacaftor, Tezacaftor, and Ivacaftor has already been demonstrated over 12 months in adults and elementary school-aged children. Now, DZL scientists have shown in the first and so far only randomized, double-blind, placebo-controlled study of CFTR modulators in toddlers (ages two to five) the long-term effectiveness of the dual therapy with Lumacaftor and Ivacaftor (LUM/IVA).

In the first part of the Phase-2 study - which has already been published - DZL researchers demonstrated that early treatment with LUM/IVA has the potential to influence the course of cystic fibrosis in children from the age of two. The 48-week, randomized, double-blind, placebo-controlled treatment phase, in which children with CF (homozygous for F508del-CFTR) received either LUM/IVA or a placebo, was extended in the second part by an additional 48-week open-label phase during which all children received the medication. For this second phase, among other parameters, the chest MRI global score was chosen as the primary endpoint to evaluate thoracic MRI as a diagnostic tool for assessing disease progression.

The results showed significant improvements in the chest MRI global score and lung function, measured by the lung clearance index (LCI2.5), compared to the baseline values from 96 weeks earlier. These study results support the use of thoracic MRI as a diagnostic tool, especially for assessing disease progression and treatment success in mildly affected young children.

Overall, the study demonstrated that early intervention can help minimize long-term damage to the lungs and other organs. Since cystic fibrosis is a progressive disease and untreated patients have a poor prognosis, the findings suggest that early combination therapy can improve both the lifespan and quality of life of patients. .

The findings of the study represent a significant step forward in the treatment of the disease, as they highlight the advantages of early therapy. Experts hope that this and further research will help improve treatment options for cystic fibrosis patients and ultimately increase both life expectancy and quality of life.

About Cystic Fibrosis
Cystic fibrosis, also known as CF, is one of the most common congenital metabolic disorders in Europe. In Germany, around 8,000 people are affected. A defect in the CFTR gene affects the salt and water balance in the body of affected individuals, leading to thick mucus that can block various organs, including the lungs, thereby impairing their function. This results in recurrent infections, inflammation, and a gradual decline in lung function. Until 2020, treatment was exclusively symptomatic, involving the inhalation of mucus-thinning medications. With new therapy options such as dual and triple therapies, it has been possible since 2020 to address the underlying cause of the disease for the first time. The demonstration of the long-term effectiveness of the combination therapy starting in early childhood is therefore a groundbreaking success in curbing the progression of the disease.