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Sunderland drug research into rare genetic disease gets £150k boost

Home / More / News / Sunderland drug research into rare genetic disease gets £150k boost

Published on 27 October 2016

Research into rare genetic disease gets £150k boost
Research into rare genetic disease gets £150k boost

Pharmaceutical scientists have been awarded £150,000 by the Cystinosis Foundation (CF) UK to support their 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) because the natural system breaks down. As a result the cystine crystallises in cells leading to kidney problems and eventually affecting other organs.

The current treatment for the disease 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 for patients, 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 CF UK, the University team has been able to design prodrugs to take the effective treatment directly to the cells that need it, improving its absorption and reducing 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, Doctors Lisa Frost, Peter Dawson and Paul Hambleton, in the University’s Sciences Complex, said: “We have got some fantastic results for our drug that we have designed to treat cystinosis.

"Thanks to CF UK’s extra funding we are now at the stage where we have a candidate that’s ready for further evaluation before clinical trials begin. We are hoping that the first clinical trials with cystinosis volunteers will begin in two to three years’ time, for its potential to progress to patient use.

"We also have very exciting and interesting results looking at the proteins in the cells, which should yield further positive results."

CF UK Trustee and fundraiser Neil Sugden, who himself was diagnosed with ocular cystinosis 10 years ago, visited the University alongside his son Conor, 16, to meet the researchers and take a tour of the new Living Lab.

Part of the second phase of a multi-million pound investment in Sciences at Sunderland, it has been developed to improve the quality of healthcare provision across the region, with innovative approaches to patient-centred treatment. Neil and Conor had the opportunity to see first-hand the work Sunderland is engaged in using the latest state-of-the-art equipment and proteomic techniques (the study of proteins in cells).

Neil, from Leicester, said: “The Sciences Complex facilities are incredible and it was fantastic to see for myself the work that is going on behind the scenes at the University and meet the researchers dedicating their time to this project, which will no doubt improve the lives of families living with cystinosis. It’s crucial we support their efforts through funding.

"The progress to develop drugs which have so much potential is a huge step forward for both the Foundation and for the University."

He added: “Being diagnosed with ocular cystinosis came as a shock, but I found out about the CF UK, who were extremely helpful and supportive when I contacted them for information about the condition. I now hope I can give something back to the Foundation and help others who suffer from this rare condition. All our fundraising takes place across the UK to raise the profile, and is mainly done by members who have someone in their family living with this disease."

In addition to the drug research, Dr 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, which Neil suffers. The new drugs are designed to improve the current treatment.

Prof Anderson added: “For us this is more than a research project, it’s a project that has an impact on real people, and we now know so many of the 150 UK cystinosis patients through our research. Meeting Neil and Conor was wonderful and hopefully we’ve given them a greater understanding of the work we’re doing here at Sunderland."

Conor, who will be studying chemistry at A-level next year, was also given a chance to carry out some experiments in the University’s analytical labs with the help of Sunderland technicians, during his visit.