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Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
Published on: February 11, 2017
Breakthrough therapies: Cystic fibrosis (CF) potentiators and correctors
George M Solomon1, Susan G Marshall2, Bonnie W Ramsey2,3
1Department of Medicine and the Gregory Fleming James Cystic Fibrosis Research Center, Birmingham, Alabama.
Abstract:
Cystic Fibrosis is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene resulting in abnormal protein function. Recent advances of targeted molecular therapies and high throughput screening have resulted in multiple drug therapies that target many important mutations in the CFTR protein. In this review, we provide the latest results and current progress of CFTR modulators for the treatment of cystic fibrosis, focusing on potentiators of CFTR channel gating and Phe508del processing correctors for the Phe508del CFTR mutation. Special emphasis is placed on the molecular basis underlying these new therapies and emerging results from the latest clinical trials. The future directions for augmenting the rescue of Phe508del with CFTR modulators are also emphasized.
Insights
New CFTR modulators offer hope for cystic fibrosis patients by targeting the Phe508del mutation. These therapies improve CFTR protein function, showing promising results in recent clinical trials for this genetic disease.
Area of Science:
- Medical Genetics
- Pharmacology
- Molecular Biology
Background:
- Cystic Fibrosis (CF) is a genetic disorder caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene.
- These mutations lead to defective CFTR protein function, impacting ion transport and causing disease symptoms.
Purpose of the Study:
- To review the latest advancements in CFTR modulators for cystic fibrosis treatment.
- To focus on potentiators and correctors targeting the common Phe508del mutation.
- To discuss the molecular mechanisms and clinical trial outcomes of these emerging therapies.
Main Methods:
- Review of recent scientific literature and clinical trial data.
- Analysis of molecular mechanisms underlying CFTR modulator therapies.
- Focus on potentiators and Phe508del correctors.
Main Results:
- Multiple drug therapies targeting CFTR mutations have been developed.
- CFTR modulators, including potentiators and correctors, show significant progress.
- Emerging clinical trial data demonstrates the efficacy of these targeted therapies.
Conclusions:
- CFTR modulators represent a significant advancement in treating cystic fibrosis.
- Targeted therapies for specific CFTR mutations, like Phe508del, are transforming patient care.
- Future research will likely focus on further optimizing these modulators for enhanced therapeutic benefit.
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