Research achievements: Understanding and treating symptoms of CF

People with CF are at the heart of our research programme. It is important that our priorities in deciding the research that we fund are aligned with the priorities that people living with CF have for research.

In January 2017 the results of a James Lind Alliance Priority Setting Partnership in CF were announced. The partnership was a world-wide consultation process to identify the research areas that were a priority to the CF community. It was co-funded by the Trust and the University of Nottingham. The topics identified included reducing the burden of care, effective treatment in early life, tackling lung infection and relief for GI symptoms. These priorities continue to be an important factor in assessing which research proposals the Trust funds.

Supporting children with CF can begin before they are born for parents who are known carriers of the CF gene, as prenatal tests can determine whether their baby has cystic fibrosis. A research grant from the Trust, co-funded with Action Medical Research led to the development and implementation of a maternal blood test to determine if a baby has cystic fibrosis. Before the study was funded, such tests involved a risky and invasive procedure of taking a sample of the amniotic fluid for testing. Two years after the introduction of the maternal blood test, significantly more CF carriers were choosing to be tested than before this new test was available.

The London CF Collaboration (LCFC) is a consortium of CF clinics that was established to improve understanding of the evolution of early lung disease in children with cystic fibrosis. It includes centres at Great Ormond Street Hospital, the Royal Brompton Hospital, Barts and the Royal London, King’s Cross Hospital and University Hospital Lewisham. It was first supported by the Trust in 1999 and we have supported a number of research studies conducted by the Collaboration.

The LCFC has developed less invasive, accurate and objective measures for assessing lung function. The measures have been used to inform the care and support of children with CF and have allowed the effects of treatments in clinical trials to be more accurately measured.

The lung function of someone with CF is an important measure of their health. It can vary according to body size, gender and ethnicity, and changes in children as they grow and develop. To make comparisons of the health of different people with CF, it is important to account for all these varying factors in lung function. Equations are used to take into account these variations.

Research conducted by members of the LCFC consortium and co-funded by the Trust led to the successful evaluation of a new set of ‘GLI’ equations, applied to people with CF of any age. These equations are now used to report lung function in the UK CF Registry. Prior to this research different sets of equations were used at different ages and by different health authorities to assess CF lung health, giving misleading information in tracking lung health over time.

The last decade has been an exciting time in CF drug development, with clinical trials for CFTR modulators being conducted alongside trials to improve symptomatic treatment of cystic fibrosis. As well as funding for the development of drugs to test, running the clinical trials themselves and maintaining the infrastructure to start new trials quickly is also important – the rationale for establishing our Clinical Trials Accelerator Programme (CTAP). As our UK CTAP programme was finding its feet, it was important to ensure the momentum of CF drug development was maintained by supporting the European CF Clinical Trial Network (ECTN) infrastructure for running clinical trials across Europe. It’s likely that increasing multinational collaboration will be required as CF treatments become more tailored with more specific criteria for participating in studies, so we continue to contribute to the running of the ECTN.

As CF is a rare disease it can be an unprofitable and difficult market for small biotechnology and pharmaceutical companies to work in. The Trust is proud to have helped support the development of early pre-clinical (before clinical trials) and early clinical trials of SME-led CF drugs to manage lung-related symptoms of cystic fibrosis. This was a high-risk strategy, and to date none of these early-stage drugs have been licensed for CF, but along the way they have led to greater knowledge of what goes wrong in the CF lung.

We have also supported a number of research studies about how people with CF and their families can manage their symptoms, including ways to encourage them to maintain their treatment plans, physiotherapy and exercise. For example, we supported the development of the software for the CF HealthHub digital health programme. We also supported the demonstration of the feasibility of running online Tai Chi classes for people with cystic fibrosis. We also have a long-running digital health programme, investigating the use of home monitoring in cystic fibrosis.