Life has changed beyond recognition for Nicole Adams, 34, who was diagnosed with cystic fibrosis as a child. A gamechanging new treatment for the condition – available thanks to vital research by Queen’s University Belfast – has extended her life expectancy and alleviated many of the worst symptoms.
Cystic fibrosis (CF) is a genetic disorder that causes the body to make a thick mucus that affects the lungs and digestive system. It is a progressive, life-limiting condition that causes coughing, breathing problems, weight loss and makes patients vulnerable to a range of lung infections.
Adams, from Newtownabbey near Belfast, grew up with an onerous routine of treatments to clear her airways and was always in and out of hospital. To her, making plans for the future seemed futile as she had little clarity on how the disease would unfold.
“I grew up seeing people my age who aren’t here today,” Adams says. “That’s the reality of CF. Back then, we didn’t have the drugs we have now.”
But today, thanks to the transformational treatment Kaftrio – known as Trikafta in the US – Adams’ health has improved and she is making plans for the long term. She has also done what was once unthinkable – had a child of her own. “I’m not just surviving any more,” she says. “I’m living. I can plan things. I can look forward to the future.”
Adams started taking Kaftrio after she was hospitalised in 2019 when her lung function deteriorated due to a serious infection. Things were not looking good. “I thought I would never leave the hospital alive,” she says.
Adams’ doctor, Prof Damian Downey, a clinician and expert in cystic fibrosis research at Queen’s University’s Wellcome-Wolfson Institute for Experimental Medicine, pushed to put Adams on Kaftrio, even though the drug had yet to gain regulatory approval in the UK. Downey, who has worked with Adams throughout her adult life, believed she should have access to the treatment, given her critical condition.
“When I got the first two tablets, everything changed,” says Adams. “Within 48 hours, I was back on my feet. I got out of hospital. I could breathe again.”
More than 11,000 people suffer from cystic fibrosis in the UK, according to the Cystic Fibrosis Trust, and over 100,000 are known to be affected worldwide. For decades the treatment focused on managing symptoms with a range of therapies, but a breakthrough came in 1989 with the discovery of CFTR, the gene responsible for the disease. When it is faulty, it affects the working of a protein that plays a vital role in thinning mucus. For more than 15 years, Queen’s University researchers have been at the forefront of developing and testing therapies to improve the function of this protein.
In particular, Downey and the team at Queen’s played a key role in the European clinical trials for Kaftrio, a transformative treatment developed by Vertex Pharmaceuticals that addresses the underlying causes of the illness. It has been hailed as a gamechanger.
The team at Queen’s played an important role in trial design and building the clinical infrastructure needed to deliver the therapies safely and effectively. Kaftrio was approved by UK regulators in 2020 after the trials showed that it addressed the underlying cause of cystic fibrosis in around 90% of people with the condition.
“This is a golden era of CF research,” Downey says. “I feel privileged as a researcher and clinician to be part of the team at Queen’s which has played such a vital role in helping the CF community.”
Today, Adams takes Kaftrio routinely, and it has transformed her life. “I’m alive because of that research,” says Adams. “I wouldn’t be here without Queen’s. They took a chance on me because the evidence was there.
“Damian [Prof Downey] fought for us. He pushed so hard for the CF community to get access to these drugs. He never gave up on us.”
Downey emphasises how important the “active CF community” was in driving the medical trials for Kaftrio. This community comprises patients and their families, clinicians, drug developers and campaigners. “If it was piecemeal and there was no community network, drug development would take longer because you wouldn’t have the coordinated ability to run clinical trials,” he says.
The European cystic fibrosis clinical trials network, which brings together 68 cystic fibrosis centres across Europe, provided speedy access to trial participants. Queen’s researchers have been deeply involved in managing the network and also in interpreting the clinical data. Downey co-wrote a key research paper, published in the prestigious medical journal the Lancet, that was vital in getting regulatory approval.
“We have seen people change within a matter of days of taking these drugs, which is quite remarkable,” he says. “We see rapid improvement in lung function, and people who might have been in hospital up to 12 weeks a year not being in hospital at all.”
Some 10% of sufferers have genetic mutations that do not respond to Kaftrio. For those people, other treatments are under development.
Cystic fibrosis research at Queen’s stretches far beyond Kaftrio. It continues to develop new drugs for CF and is committed to understanding the challenges of a now ageing population.
Across Queen’s as a whole there is deep involvement in medical research, through the Johnston Cancer Research Centre and the Wellcome-Wolfson Institute, which focuses on respiratory medicine, immunology and vascular medicine. Meanwhile, the Centre for Public Health addresses wider societal health issues.
“I think we have a great infrastructure at Queen’s to engage with patients and families and to drive forward medical research,” says Downey. “Our success is rooted in our culture, which is collaborative rather than competitive.”
A force for change: discover more about the real-world impact of clinical research at Queen’s University Belfast
