Researchers have been awarded nearly £4 million to take a drug, discovered by an “inspirational” University of Sunderland scientist dedicated to improving the treatment of patients with a rare, life-threatening genetic disease into clinical trials.
Professor Roz Anderson, who lost her life to cancer in the summer of 2018, had worked tirelessly to secure a grant from the Medical Research Council (MRC) which would take her research work – designing drugs to treat and improve the quality of life for cystinosis patients – into preclinical trials.
There is currently no cure for cystinosis, which occurs when the body is unable to correctly process cystine (an amino acid). Normally, a person can process cystine, but for people with the condition, cystine builds up and attacks every part of the body, particularly the kidneys, muscles and eyes. Without treatment, patients can die from kidney and multiorgan failure before the age of 10.
The current and only treatment for the disease, cysteamine, produces unpleasant side effects such as nausea, vomiting, bad breath, a poor body odour, ulcers and gut damage. A large dose of the drug is required four times a day, for life.
Professor Anderson and her team designed a novel prodrug (CF10) that takes the effective treatment directly to the cells that need it, limiting breakdown and avoiding the unpleasant side effects.
In 2018, the MRC Developmental Pathway Funding Scheme awarded £1.6 million to the University of Sunderland and collaborators to complete the pre-clinical development stage started by Professor Anderson.
Now, the team has received a further £3.9 million from the MRC to take the drug into clinical trials.
Professor Herbie Newell, who has a background in bringing drugs from discovery to market whilst at Newcastle University, is leading the project.
He said: “Professor Roz Anderson discovered CF10 with generous funding from Cystinosis Foundation UK, a patient and carer charity – and the latest funding we have received from the MRC will allow us to give CF10 to patients for the first time.
“Roz was an inspirational and outstanding medicinal chemist. The trial this funding has made possible will both offer hope for cystinosis patients and create a lasting legacy for Roz. CF10 has the potential to transform the treatment and lives of patients living with cystinosis.”
Professor Newell and the University of Sunderland team will be working with High Force Research (Durham), who will make the CF10, Newcastle Specials based at the Royal Victoria Infirmary, part of Newcastle upon Tyne Hospitals NHS Foundation Trust, who will produce the CF10 capsules, University Hospitals Birmingham NHS Foundation Trust (UHB) and the University of Birmingham, who will treat the patients and manage the first phase of the clinical trials and Birmingham Women’s and Children’s NHS Foundation Trust and CEMAS (Wokingham), who will analyse patient samples.
Patient volunteers will be given increasing doses of CF10 to identify an active dose.
Queen Elizabeth Hospital Birmingham (QEHB), part of UHB, will be the only site in the UK running this trial, with all patients seen at the hospital’s Centre for Rare Diseases – one of the largest centres of its kind in the country.
The trial will be led by Dr Graham Lipkin, a kidney specialist at UHB and an expert in treating patients with cystinosis.
Dr Lipkin said: “I’m incredibly proud to be leading this trial here at QEHB, which could make a real difference for patients with this rare condition. Cystinosis is a dreadful inherited disorder that usually presents in early infancy, initially damaging the kidneys and eyes and often requiring dialysis or a kidney transplant. Over time, it can also cause diabetes, hormone deficiencies, and progressive muscle weakness, resulting in loss of strength, swallowing difficulties and chest problems.
“This partnership between UHB, the University of Birmingham, and the University of Sunderland brings together world-class expertise with the potential to set a new standard of care, delivering a treatment that could be truly life-changing for patients.”
Will Newman, Chair of Cystinosis Foundation UK, said: “For those living with cystinosis, the daily reality is brutal – relentless medication schedules, sleep deprivation, and harsh side effects from cysteamine. CF10 could change everything.
“This new treatment promises fewer doses and virtually no side effects. It’s not just a scientific milestone – it’s hope for a brighter future. We are hugely grateful to Professor Roz Anderson, Professor Herbie Newell and the fantastic team at Sunderland for advancing CF10 into clinical trials, and to our community whose fundraising efforts have been nothing short of heroic, helping a tiny charity punch far above its weight in drug development. If CF10 succeeds, it will be life changing, not just for those in the UK, but for the cystinosis community worldwide.”
Dr Adrian Moore, Head of the School of Pharmacy and Pharmaceutical Sciences at the University of Sunderland, said: “Roz embodied the University of Sunderland’s vision that research can change lives and inspire generations to come.
“It has been both a pleasure and an honour for colleagues and external partners to take forward and bring Roz’s work to fruition for the benefit of the cystinosis community. This most recent award from the MRC represents the next step in this exciting and much needed journey.”
Pro Vice-Chancellor of the Faculty of Health Sciences and Wellbeing at the University, Professor Laura Stroud, added: “The award is testament to the determination of a number of dedicated scientists and clinicians, and is a fitting legacy for the late Professor Roz Anderson, on whose inspirational work this builds.
“Most importantly, the trial brings hope to families and children with this rare disease – we are proud to support this ground-breaking work.”