Researchers from Queen’s have transformed the lives of people with Cystic Fibrosis by leading on the clinical development of treatments that address the underlying genetic disorder.
80,000 PEOPLE LIVE WITH CYSTIC FIBROSIS GLOBALLY
Cystic Fibrosis is a progressive, life-limiting genetic disease that causes severe respiratory and digestive problems as well as other complications such as infections and diabetes.
There are over 80,000 people living with Cystic Fibrosis globally, including 10,500 in the UK accounting for 9,500 hospital admissions and over 100,000 bed days per year.
The condition is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which is responsible for the regulation of salt and water levels in the body. The mutations can lead to the build-up of thick mucus in the lungs, digestive tract and other parts of the body causing persistent chest infections, resulting in lung damage and an early death.
PIONEERING A DRUG DEVELOPMENT PROGRAMME
Queen’s University’s Cystic Fibrosis research team is recognised as world leading, having worked for over 12 years supporting the development of drugs that improve the function of CTFR.
Prior to their work, treatments for Cystic Fibrosis had been focused on symptom control. However, during the last decade, Queen’s University Belfast has been at the forefront of major advancements in drugs targeting the underlying genetic deficit.
This work included the development of clinical trial protocols, and inclusion of key outcome measures such as; lung function (FEV1), pulmonary exacerbation rate, and Quality of Life (QoL) tools for use in clinical trials of new therapeutics.
Extensive clinical trial experience coupled with a Clinical Trial Network infrastructure established by Queen’s and the Belfast Health and Social Care Trust, resulted in Queen’s playing a pivotal role in a drug development programme working alongside Vertex Pharmaceuticals to deliver trials for single, double and triple therapies in Cystic Fibrosis.
Working with industry, clinical trial networks and contract research organisations and colleagues at other Higher Education Institutes such as Imperial College, Queen’s University has developed expertise in the delivery of clinical trials of single and multiple combination therapies.
Their expertise in Cystic Fibrosis, and with respect to clinical trials has hugely contributed to the outstanding progress in treating this severe, life shortening disease across more than a decade of dedicated help and knowledge.
What impact did it make?
TRANSFORMING THE LIVES OF PEOPLE WITH CYSTIC FIBROSIS
These transformative therapies improve lung health and have underpinned the regulatory approval and marketing of 4 breakthrough Cystic Fibrosis therapies.
The most recent trials successfully demonstrated that a combination of drugs can treat up to 90% of people with Cystic Fibrosis by addressing the underlying cause of their disease. This new “triple therapy” results in a significant improvement in lung function and quality of life and reduces the frequency of chest infections.
Both the Food and Drug Administration and the European Medicines Agency approved Trikafta (US)/Kaftrio (EU) for use in 2020. The drug was hailed as a “landmark approval” by the FDA having an expedited approval process including Priority Review, Fast Track, Breakthrough Therapy, and orphan drug designation.
The importance of these CFTR modulators has also been recognised by experts in the international CF community. The National Institutes of Health Director who, with colleagues, discovered the CFTR mutation in 1989 spoke about the importance of the Trikafta phase 3 trial results:
“…it has been 30 years that we've been hoping and dreaming for a day like this, where you could look at data and just absolutely - your jaw drops because it is so impressive and so good. Now we are at the point with this triple therapy where 90% of people with cystic fibrosis are going to have substantial and amazing benefit from the drug therapy...”
The Queen’s research team has been instrumental in developing and strengthening international Cystic Fibrosis research initiatives. Professor Stuart Elborn was instrumental in establishing the of which Dr Damien Downey is now Director. It has grown to encompass 58 research centres across 17 countries, caring for over 21,000 adult and paediatric patients, which is approximately 20% of the global population of patients with Cystic Fibrosis.
Impact related to the UN Sustainable Development Goals
Learn more about Queen’s University’s commitment to nurturing a culture of sustainability and achieving the Sustainable Development Goals (SDGs) through research and education.