Where are we now?
Cystic fibrosis is caused by mutations in the CFTR gene. Some effective treatments for people with specific mutations, known as 'precision medicines', have now been developed. These include the newly-licensed drug Kaftrio. For the latest updates on these treatments, visit the life-saving drugs area of our website.
These treatments could have a dramatic impact on the lives of people with CF (and have begun doing so already) by improving their life expectancy, reducing the number of lung infections and improving their quality of life.
However, the era of precision medicines brings with it new challenges which the research strategy aims to help solve.
What are the challenges and how are we solving them?
The best treatment for you
The impact of taking precision medicines will be different for each individual with cystic fibrosis. For example, older people with CF may have more lung damage, or complications such as CF-related diabetes (CFRD). This means that the way that their CF is managed will be unique to them, and treatments will need to reflect this. We’re funding research to look at how treatments can be personalised to each individual with cystic fibrosis.
Waiting for the right drugs
The development of precision medicines for people with CF is a huge leap forwards, but we shouldn’t be complacent. More research is needed to determine whether CFTR modulators may be beneficial for more genotypes than they are currently approved for. We are working hard to assess whether people with other, rarer genotypes may also benefit from these drugs. Studies such as HIT-CF and research within the UK Cystic Fibrosis Innovation Hub will be important to determine this.
There is also room for improvement in the drugs that are licensed – by tweaking the drug design we could improve how they work and reduce the side effects, creating the next generation of precision medicines. To achieve this, we need to continue lab-based biomedical research to increase our understanding of how the CFTR protein works and how it goes wrong in CF, and novel ways to restore its function. It’s also important to keep the interest of the drug companies involved, as they may decide to work on easier (and more profitable) disease areas if we don’t.
We are still looking to develop drugs that would work for anyone with CF, whatever their genotype. This includes people with rare mutations and those who don’t benefit from the current drugs or who experience side effects.
CF and diseases of older age
As the general population gets older, they start to become affected by a range of different diseases and conditions. The same will be true for people with cystic fibrosis. We know that people with CF will be affected by conditions like cancer, diabetes, heart disease and social wellbeing in different ways to those who don’t have cystic fibrosis. It is important to explore these differences and to reduce their impact.
Altering the CFTR gene
Rather than using drugs to correct the function of the CFTR protein, another area of research underway is looking to correct the CFTR gene itself, either by delivering healthy, non-mutated copies of the gene using gene therapy, or by permanently correcting the existing damaged copy of the gene using gene editing.
Treating lung infections
People with CF can develop a range of different lung infections, and it’s important to know which infections are present and how to treat them. Current post-licensing drug studies on the first of the CFTR modulators, Ivacaftor (known as Kalydeco), showed that while people taking it have fewer flare-ups of poor lung health and fewer infections, people are still susceptible to some infection, highlighting the importance of continuing to invest in research to treat lung infections.
The earlier the infections are detected, the better chance there is of effectively treating them. Understanding how the bugs (bacteria, viruses and fungi) work can lead researchers to spot weaknesses that can be targeted with drugs. Increasingly these bugs are becoming resistant to antimicrobial therapies used to treat infections. Overcoming antimicrobial resistance for CF will have much wider, global health benefits too.
Repairing damaged lungs
As the lungs get more damaged, for many with CF a lung transplant may become the only treatment option, but there are sadly not enough donor lungs readily available. Researchers are investigating whether a combination of stem cell technology and gene editing could replace damaged lung cells, regenerating the lungs and providing an alternative to lung transplant.
How will we do it?
Balancing our funding
It is important that we balance our research investments, making sure that we invest in research that will have an impact on people with CF in the short term, together with approaches that aim to effectively cure CF or significantly improve the lives of people with CF in the longer term. We plan to do this by continuing our successful response-mode funding approaches with open funding calls and growing our strategic investments through the development of strong partnerships with external funders and the biopharmaceutical, biotechnology and HealthTech industrial sectors.
Response mode funding schemes
Our 2013–2018 research strategy created new approaches for conducting research, which included setting up multidisciplinary, collaborative and international research programmes called Strategic Research Centres (SRCs) and co-investing with external funding bodies to progress translational research in CF through our Venture and Innovation Awards (VIAs). We will continue to fund research using these funding schemes.
New strategic investments growing out of the previous research strategy include the Clinical Trials Accelerator Platform (CTAP), designed to enable increased access to clinical trials; our digital healthprogramme including the SmartCareCF and Project Breathe studies; and the UK CF Innovation Hub at the University of Cambridge, which is focused on lung health. Integrating the activity across these programmes helps us to move towards personalised medicine for people with cystic fibrosis. In turn, data collected as part of the SmartCareCF programme may be efficient at predicting the benefits of a drug in a CTAP co-ordinated clinical trial.
Taking opportunities to participate in wider programmes
Antimicrobial resistance, accelerated access to medicines and personalised healthcare are the focus of Government and NHS initiatives in a wide range of health conditions, as well as being of importance in cystic fibrosis. By taking opportunities to participate in wider programmes we aim to harness these initiatives to accelerate progress in CF research.
Working with you
The CF community is at the heart of everything we do, and we will ensure you are able to continue to help shape our research agenda. We do this by ensuring that people with CF and parents are represented on our funding panels for response mode research and on the committees and oversight boards of our strategic investments. We will also continue to improve how we communicate the research we’re funding, progress made and how this investment makes a difference to people affected by cystic fibrosis and their families.
Read more about our research strategy and the achievements from our last strategy.
Read our research strategy