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Updated: Oct 30, 2025
Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
New Therapies to Correct the Cystic Fibrosis Basic Defect
Christelle Bergeron1, André M Cantin1,2
1Department of Medicine, Respiratory Division, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, QC J1H 5N4, Canada.
Insights
Cystic fibrosis (CF) treatments are evolving beyond symptom management. New therapies, like CFTR modulators, target the underlying genetic defect, offering hope for improved patient outcomes and future research directions.
Area of Science:
- Genetics and Molecular Biology
- Pulmonology
- Pharmacology
Background:
- Rare diseases, including cystic fibrosis (CF), present significant challenges in diagnosis and treatment.
- Historically, CF therapies focused on managing symptoms rather than addressing the root cause.
- The identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene revolutionized understanding of CF's basic defect.
Purpose of the Study:
- To review current knowledge of cystic fibrosis genetics.
- To summarize therapies aimed at restoring CFTR protein function.
- To highlight the role of CFTR modulators and gene therapy in CF treatment.
Main Methods:
- Literature review of CF genetics and therapeutic advancements.
- Analysis of research on CFTR protein function and dysfunction.
- Synthesis of data on current and emerging CFTR-targeting therapies.
Main Results:
- CFTR modulators represent a significant advancement, correcting, potentiating, stabilizing, or amplifying CFTR function.
- Gene therapy research is progressing, aiming for broader efficacy in the CF community.
- Targeted therapies are shifting focus from symptom management to addressing the genetic basis of CF.
Conclusions:
- CFTR modulators have transformed outcomes for many CF patients.
- Ongoing research into gene therapy and other targeted approaches promises further improvements.
- A deeper understanding of CF genetics underpins the development of these innovative treatments.
Abstract:
Rare diseases affect 400 million individuals worldwide and cause significant morbidity and mortality. Finding solutions for rare diseases can be very challenging for physicians and researchers. Cystic fibrosis (CF), a genetic, autosomal recessive, multisystemic, life-limiting disease does not escape this sad reality. Despite phenomenal progress in our understanding of this disease, treatment remains difficult. Until recently, therapies for CF individuals were focused on symptom management. The discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its product, a protein present at the apical surface of epithelial cells regulating ion transport, allowed the scientific community to learn about the basic defect in CF and to study potential therapies targeting the dysfunctional protein. In the past few years, promising therapies with the goal to restore CFTR function became available and changed the lives of several CF patients. These medications, called CFTR modulators, aim to correct, potentialize, stabilize or amplify CFTR function. Furthermore, research is ongoing to develop other targeted therapies that could be more efficient and benefit a larger proportion of the CF community. The purpose of this review is to summarize our current knowledge of CF genetics and therapies restoring CFTR function, particularly CFTR modulators and gene therapy.
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