Clinical trials help scientists to find new treatments, modify use of existing treatments, help prevent diseases and improve care. By volunteering to take part in research and with the support of her mother, Isabella is playing a crucial part in testing how we manage treatment of patients with cystic fibrosis.
Cystic Fibrosis
Cystic Fibrosis is an inherited genetic condition caused by a faulty gene in both parents that affects the movement of salt and water in and out of cells. It causes thick, sticky mucus to build-up in tubes and passageways, particularly the lungs and digestive system, which causes lung infections and problems with digesting food. The condition occurs in around 1 in 2500 live births in the UK, with around 200–300 new diagnoses annually.
Cystic fibrosis tends to get worse over time if it leads to a serious infection or the lungs stop working properly. There is no cure for cystic fibrosis, but a range of treatments can help control the symptoms, prevent, or reduce complications, and make the condition easier to live with. People with cystic fibrosis are now living longer because of advancements in treatment.
Isabella’s Clinical Trial
Isabella was part of a multi-centre, international research trial led by a pharmaceutical company named Vertex, recruiting patients from UK, Australia, EU, and Israel, to test the effects and benefits of a triple combination therapy called Elexacaftor-Tezacaftor-Ivacaftor. The treatment was approved in the USA, EU, and Switzerland for cystic fibrosis patients with certain variants in the cystic fibrosis gene for people over the age of 12, but not for people of Isabella’s age. This triple combination is not approved by Health Authorities for younger children and is being tested for safety and effectiveness. Isabella has been part of a double blinded randomised control trial followed by an open label roll-over study evaluating the effects of this treatment for this condition. Following Isabella’s participation in this trial, the drug has now been licensed for people her age – and it is now prescribed to all with appropriate genes aged 6 years and up in the UK and other countries.
Isabella’s mother, Angela, has given her thoughts on their experience of participating in this research study at the NIHR Alder Hey Clinical Research Facility. Angela says she was “excited and nervous” to be approached about taking part in the research study and wanted to take part to “help others” with the same condition. Angela says, “Taking part in the trial was very exciting and we noticed a difference in the first week and ever since through weight gain, height, no cough, skin, hair, it’s been an unbelievable experience”. Angela and Isabella are “so grateful to have had this opportunity.”
Angela’s message to other parents who are considering being part of a research study at Alder Hey, is to emphasise that “it will be very helpful, not just for you but for others.” Angela would advise “any parent to give their child the opportunity to take part in the research” and wanted to, “thank all the staff who are involved for all the support they have given us as a family”.
Catherine McBurney, the lead research nurse for Isabella’s research study visits, along with Victoria King, Cystic Fibrosis Trial Coordinator, and Phil Lawrence, Respiratory Physiologist, have thoroughly enjoyed working on this study and supporting Isabella and her family during their visits. Victoria advises that, “It has been a fantastic opportunity to work on these studies and to see the impact these life changing medicines have had on our patients. It has been a privilege to have been involved and be part of this journey with our patients and their families.” Catherine advises that, “It is lovely to hear from patients and their families about the positive impact this research has had. When I introduced myself to the family, they explained the positive impact this study had on Isabella. It was lovely working with the family and being part of such an important life changing study.”
Dr Rebecca Thursfield, lead investigator for the study at Alder Hey said: “It is so important that families and patients like Isabella, can participate in research studies that will not only hopefully benefit them, but also the wider public. Research studies such as Isabella’s study are the vehicle to enable medicines like the triple combination therapy provided in this study to be considered for licensing and if successful, approval for wider use across the UK.”
Find out more about the CRF team