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Updated: Jun 17, 2025
Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression
Published on: April 18, 2025
Cystic fibrosis
Marcus A Mall1,2,3, Pierre-Régis Burgel4,5, Carlo Castellani6
1Department of Paediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität, Berlin, Germany. marcus.mall@charite.de.
Abstract:
Cystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the unravelling of disease mechanisms and, more recently, the development of CFTR-directed therapeutics that target the underlying molecular defect. The CFTR protein functions as an ion channel that is crucial for correct ion and fluid transport across epithelial cells lining the airways and other organs. Consequently, CFTR dysfunction causes a complex multi-organ disease but, to date, most of the morbidity and mortality in people with cystic fibrosis is due to muco-obstructive lung disease. Cystic fibrosis care has long been limited to treating symptoms using nutritional support, airway clearance techniques and antibiotics to suppress airway infection. The widespread implementation of newborn screening for cystic fibrosis and the introduction of a highly effective triple combination CFTR modulator therapy that has unprecedented clinical benefits in up to 90% of genetically eligible people with cystic fibrosis has fundamentally changed the therapeutic landscape and improved prognosis. However, people with cystic fibrosis who are not eligible based on their CFTR genotype or who live in countries where they do not have access to this breakthrough therapy remain with a high unmet medical need.
Insights
Cystic fibrosis (CF) is a genetic disorder caused by CFTR gene mutations. New CFTR modulator therapies offer significant benefits but leave many patients with unmet medical needs.
Area of Science:
- Genetics
- Molecular Biology
- Pulmonology
Background:
- Cystic fibrosis (CF) is a rare genetic disease stemming from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- CFTR protein dysfunction disrupts ion and fluid transport, leading to multi-organ disease, primarily muco-obstructive lung disease.
- Historically, CF care focused on symptom management, including nutritional support, airway clearance, and antibiotics.
Purpose of the Study:
- To review the discovery of CFTR and the evolution of CFTR-directed therapeutics.
- To highlight the impact of recent CFTR modulator therapies on the CF treatment landscape.
- To identify the unmet medical needs in the CF population.
Main Methods:
- Literature review of CFTR discovery and therapeutic development.
- Analysis of the clinical benefits and limitations of current CFTR modulator therapies.
- Examination of the current unmet medical needs in CF patient populations.
Main Results:
- The discovery of CFTR enabled understanding of disease mechanisms and development of targeted therapies.
- Highly effective triple combination CFTR modulator therapy has transformed prognosis for up to 90% of eligible patients.
- A significant unmet medical need persists for CF patients ineligible for or lacking access to current modulator therapies.
Conclusions:
- CFTR modulator therapies represent a breakthrough, fundamentally altering CF care.
- Despite advances, a substantial portion of the CF population still requires novel therapeutic strategies.
- Further research and equitable access are crucial to address the remaining challenges in cystic fibrosis treatment.
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