Zukunft der Mukoviszidoseforschung und -therapie

Cystic fibrosis (CF, mucoviscidosis) is the most frequent monogenetic disease in White populations and is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The most frequent mutation F508del is present in ca. 85% of CF patients on at least one allele and results in a misfolded CFTR protein. The development of CFTR modulators has led to a significant improvement in lung function and the quality of life in patients with CF. A highly effective CFTR modulator treatment is currently approved for approximately 85% of patients in Germany based on the CF genotype. For these patients with frequent CFTR mutations, the task in the future will be to further optimize the correction of CFTR function and ideally a normalization. For patients who currently do not have access to modulator treatment or do not tolerate it, other strategies such as genetic therapy or targeting of alternative ion channels are under development. In addition to the development of novel causal treatment, the research and development of more effective mucolytic, anti-inflammatory and anti-infective therapies for all CF patients remains very important. This review highlights the current progress in research and the remaining obstacles in the development of effective treatment targeting the underlying defect in all patients with CF.