Pharmaceutical scientists at the University of Sunderland have been awarded £125,000 by the Cystinosis Foundation (CF) UK to fund the next stage of their research into a rare genetic disease.
The funding will support research which evaluates whether prodrugs, intended to drastically improve the current treatment of cystinosis, could work effectively on patients.
There is currently no cure for cystinosis, which occurs when the body is unable to process cystine (an amino acid) in cells because the natural system is malfunctioning, as a result the cystine crystallises in cells leading to kidney problems and eventually affecting other organs.
Currently, cystinosis is treated with the active ingredient Cysteamine, in a product called Cystagon®; however, this produces unpleasant side effects, such as nausea, vomiting, halitosis, body odour and a noxious taste. A large dose of the drug is required four times a day, as up to 70 per cent is wasted through the body's metabolism during digestion and absorption, with no therapeutic benefit.
But with ongoing support from CFUK, the university team has been able to design prodrugs to take the effective treatment directly to the cells that need it, improve its absorption and reduce the unpleasant side effects. The new funding stream will support tests to discover the effectiveness of the prodrugs in treating cystinosis.
Professor Roz Anderson, who heads up the team of pharmaceutical scientists, Dr Lisa Frost, Paul Hambleton and Dr Hamde Nazar, at the University, said: "Lisa's initial tests have shown that these prodrugs have the potential not only to produce the required therapeutic effects, but also to reduce the side effects and improve the patient experience. This new financial support will allow us to work with clinicians and industrial collaborators in Europe to investigate the prodrugs for their potential to progress to patient use.'
Also supporting Prof Anderson and a team of pharmaceutical scientists to carry out a comprehensive three-year study into the disease using the latest research techniques is US charity, the Cystinosis Research Network (CRN), by providing financial support for PhD researcher Jill Jobson. Through this study the team hope to improve detection and early diagnosis, as well as develop new targets for intervention and preventative treatment offering hope to thousands of sufferers and their families.
The university's research is welcomed by David and Claire Benford, who have been keeping their 12-year-old daughter Darcy's disease under control through regimented medication since she was a baby.
The family recently visited the University's Sciences Complex, met the research team and saw first-hand the work they're doing using the latest state-of-the-art equipment and proteomic techniques (the study of proteins in cells).
David, from South Derbyshire and a trustee with CFUK, said: "It's fantastic that the University is putting so much effort and concentration into such a rare disease that receives little attention from the pharmaceutical industry.
"Roz and her team are in constant contact with other researchers across the world, which ensures there is plenty of cross over, strengthening the work they do. They are offering hope to families like ourselves and it's crucial that we support their efforts through funding.
"We really enjoyed the visit to the Sciences Complex, the facilities are fantastic and Roz was incredibly supportive of our visit. We thought it would be good for Darcy to see what goes on and understand the research that is taking place into cystinosis; we all found it an incredibly positive experience."
He added: "Darcy is particularly lucky and an exception really, as cases of cystinosis can vary from one person to another. But she is a patient of Birmingham Children's Hospital, who do a fantastic job for her and by sticking to a strict regime of medication; she is rarely sick and takes all her drugs orally. Nothing stops her because everything is so under control, she does ballet and loves the Girl Guides, like any other normal little girl. Most importantly we all stay positive."
It is hoped that the research will eventually lead to an effective and improved treatment for cystinosis and develop into the treatment of other diseases.
Prof Anderson explained: "Cysteamine is known to have therapeutic potential in the treatment of other conditions, such as Huntingdon's and Parkinson's diseases, but is limited by its adverse properties and side effects. However, the more we learn about cysteamine and its effects on cells, the better we understand how it works and may find other pathways to develop new drugs."
Besides Prof Roz Anderson and PhD researcher Jill Jobson, the Sunderland research team includes Dr Noel Carter, Dr Ken McGarry and Prof Achim Treumann, a proteomics expert at the Biopharmaceutical Bioprocessing Technology Centre, University of Newcastle upon Tyne collaborating with the University of Sunderland team.
In addition to the drug research, PhD graduate Dr Lisa Frost has been testing drugs designed to treat eye problems associated with cystinosis. One of the consequences of the disease is a build up of cystine crystals, an amino acid, in a sufferer's eyes, causing pain, discomfort and photophobia. The new drugs are designed to improve the current treatment.