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Cystic Fibrosis Trust

Small molecule interventions

Understanding the structure of the cystic fibrosis transmembrane regulator (CFTR) and the effect of mutations on its function is a crucial part in the development of new drugs that tackle the basic defect.

The UK has particular expertise in this area of science and the Trust will continue to support this research to accelerate the development of new molecular entities, both for novel mutations and also for making the next generation of drugs within any one class.

Personalised medicines are being developed that are designed to work with specific mutations of the cystic fibrosis gene. Different mutations create a different shape and function of the CFTR, and so different interventions will be required to restore function and treat cystic fibrosis. In the future, it is likely that the treatment of any one patient will be tailored to them specifically, and could comprise a cocktail of different therapies (genotype-specific small molecules and gene therapy) to restore CFTR function.

Ivacaftor is the first drug that directly affects CFTR function in patients with the G551D mutation (4% of mutations). Phase 3 trials are currently underway for combination treatment involving ivacaftor and lumacaftor (also known as VX809) in patients homozygous for the more common mutation, F508del. Ivacaftor has been approved for use in the US with other genotypes similar to G551D. Data has also been submitted to the European Medicines Agency to extend the licence for ivacaftor in Europe to treat these genotypes.

Research

The Trust is committed to funding and supporting cutting-edge research to find new and better treatments for cystic fibrosis. Take a look at some of that work and the progress that is being made.

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What is cystic fibrosis?

Find out more about cystic fibrosis, its diagnosis and how it is treated, as well as useful links to our publications and other organisations who can help.

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More information

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