In the ‘Pathway to a cure’ presentation Dr Brian Davis and Dr Maria Limberis highlighted the importance of really understanding the biology of the cells that line the lungs, in order to deliver an effective genetic therapy. This knowledge can inform how current technology can be used to target the best treatment to the right cells. They discussed how effective delivery of genetic therapies is still an obstacle that we need to overcome – both the physical barrier of the thick sticky mucus in the CF lung, and the reaction of the body’s defence system to the delivery of the genetic therapy materials.
This talk was an informative starting point for researchers with no expertise in genetic editing. The conference featured presentations on many exciting new advances in this field, including several presentations from researchers working within the Trust-funded Strategic Research Centre on gene editing.
Understanding the ‘new CF’
Dr Jennifer Taylor-Cousar gave an excellent overview of ongoing studies to understand the effects of CFTR modifiers in more detail. There are many studies underway in the US to investigate aspects such as effects of modifiers lung infections, lung clearance and fertility. These studies complement those underway in Europe that the Trust and other CF charities are supporting.
She also had some encouraging news for those who weren’t eligible to take part in the original clinical trials either because of their advanced lung disease or their rare mutations. ‘Real world’ studies have shown that people with more advanced CF show an improvement in lung function when taking CFTR modifiers. For those with rare mutations, Dr Taylor-Cousar discussed research underway to identify non-genetic treatments. She highlighted studies using patient samples to test whether they were likely to respond to existing drugs, or drugs still in development, in the case of the European HIT-CF programme.
Acknowledging and fighting inequality
In the final section of her presentation, Dr Taylor-Cousar talked about inequalities in CF care. She raised the misperception that CF only affects white people – and the negative consequences of later diagnosis in children with CF from other ethnic groups. She also discussed the higher proportions of people with CF with rare mutations in black, Asian and other minority ethnic groups, and the inequalities across the world in gaining access to CFTR modifiers.
Dr Taylor-Cousar highlighted the results from a study presented by Meghan McGarry and researchers at the Children’s Hospital in Chicago showing that while rare mutations account for around 10% of Caucasian population, they are higher in the Hispanic (30%), Black (38%) Asian (40%) and Native American (17% ) populations respectively. “It’s really critically important that we teach trainees and others that CF can actually occur in any race or ethnicity, and we take differences into account when developing new therapies,” she said.
Impact of COVID-19
Through the cystic fibrosis registries around the world, including the UK CF Registry, researchers are collecting anonymised data on the number of people with CF who have become infected with COVID-19 and the symptoms they’ve experienced. Rebecca Cosgriff, the Trust’s Director of Data and Quality Improvement spoke about the Global Harmonisation Project, which the UK CF Registry team is involved with.
Information from registries can be used to ensure that people receive the best care if they become infected and, in the future, it may help to identify which people with CF might be most at risk of developing more severe symptoms of COVID-19.
In presenting a short talk Dr Sonia Graziano from Rome spoke about the success of using structured video calls to provide psychological support for people with CF and their families during lockdown. As part of this, she and her team encouraged everyone to think positively as a coping mechanism; for example, to think of ‘small moments of joy’ they’d experienced – whether that was talking to friends, the smell of coffee or listening to their favourite piece of music. Thinking of ‘small moments of joy’ seems like good advice for us all in the second wave of the pandemic.
Attending the online conference was a timely reminder that there are thousands of doctors, healthcare professionals and lab-based scientists around the world working hard to understand more about CF, how to treat it better and how to manage the symptoms more effectively.