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Updated: Sep 7, 2025
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Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
10.8K
Emerging medicines to improve the basic defect in cystic fibrosis
Isabelle Fajac1,2, Isabelle Sermet-Gaudelus2,3,4
1AP-HP. Centre - Université Paris Cité; Hôpital Cochin, Centre de Référence Maladie Rare- Mucoviscidose, Paris, France.
Expert Opinion on Emerging Drugs
|June 22, 2022
Summary
Cystic fibrosis (CF) treatments have advanced with CFTR modulators benefiting most patients. New therapies are emerging for CFTR mutations unresponsive to current modulators, though challenges remain for patient translation.
Area of Science:
- Medical Genetics
- Molecular Biology
- Pharmacology
Background:
- Cystic fibrosis (CF) is a severe genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- CFTR protein functions as an anion channel, and its dysfunction leads to exocrine pancreatic insufficiency and bronchiectasis.
- Traditional CF treatment focused on symptomatic management.
Purpose of the Study:
- To review the development and effectiveness of CFTR modulators in treating CF.
- To explore strategies for treating CF patients with mutations unresponsive to CFTR modulators.
- To discuss the potential of novel molecular therapies for CF.
Main Methods:
- Review of scientific literature on CFTR modulators and emerging therapies.
- Analysis of the efficacy of current CFTR modulator drugs.
- Examination of advanced therapeutic strategies including gene therapy, RNA-based therapies, readthrough agents, and cell-based therapies.
Main Results:
- CFTR modulators have significantly improved CF treatment, benefiting approximately 80% of patients.
- Over 10% of CFTR mutations result in no CFTR protein production, rendering them unresponsive to current modulators.
- Emerging molecular therapies show promise but require further development and validation.
Conclusions:
- CFTR modulators represent a major advancement in CF care.
- Significant unmet needs remain for patients with CFTR mutations not responsive to modulators.
- Continued research into novel molecular and cell-based therapies is crucial for addressing these unmet needs and translating advancements to clinical practice.
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