Jump to accessibility statement Skip to content

Sunderland researchers meet Europe’s oldest patient of rare genetic disease

Home / More / News / Sunderland researchers meet Europe’s oldest patient of rare genetic disease

Published on 10 January 2017

Prof Ros Anderson and team with Cystinosis UK Trustees
Prof Ros Anderson and team with Cystinosis UK Trustees

Europe’s oldest surviving Cystinosis patient visited our University to meet the team of researchers designing drugs that could treat and improve the quality of life for others with this rare genetic disease and to join forces in a new project.

Fifty-four-year-old Jonathan Terry is the founder of support group Cystinosis Foundation UK (CF UK), which has awarded the University of Sunderland a further £150,000 in addition to the same amount awarded in July 2016.

The funding will help pharmaceutical scientists continue their research, evaluating whether ‘prodrugs’ - intended to drastically improve the current treatment for cystinosis - could work effectively on patients.

Jonathan’s visit kicks off a new cystinosis research project at Sunderland, led by Dr Yitka Graham, aiming to develop a questionnaire suitable for use during future clinical trials of the prodrugs. The questionnaire will gather information during the clinical trials, called Patient Reported Outcome Measures (PROMs), on the views of the volunteer patients about treatment with a prodrug, such as, how it compares to their usual treatment, what improvements they note when taking it and any disadvantages or side effects they experience as a result of taking it. Currently, there is not a cystinosis-specific PROMs questionnaire. Jonathan has an important role in contributing to the PROMs design to make sure it asks the right questions in a way that is clear and understandable.

Jonathan said: “I am delighted to know that CF UK values the vital research the team at Sunderland are doing so highly that it has awarded the University team £300,000 this year, through the fundraising work the charity members do. I am pleased to be involved in the PROMs project to support the clinical trials of the prodrug.”

“It was wonderful to visit the team and see first-hand their commitment and passion for the incredible work they are doing, which will support the lives of families living with cystinosis.”

There is currently no cure for cystinosis, which occurs when the body is unable to process cystine (an amino acid). Normally a person can excrete this acid, but for people with the condition, the acid attacks every organ in the body, particularly the kidneys, liver and pancreas.

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, meaning that most patients need to take over 20 capsules every day.

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, decreasing wastage and reducing the unpleasant side effects.

During his visit, Jonathan was also given a tour of the University’s Sciences Complex, which has recently undergone a £5.5m redevelopment with new facilities designed to support and improve the teaching of healthcare workers, and ultimately patient care in the North East.

Jonathan, from Reading, said: “Since the idea of creating the prodrug was raised it’s been incredibly exciting. Now it’s at the stage of evaluation, it’s truly overwhelming and will have a huge impact on patients’ lives when it’s fully developed and being used.”

“I’m not speaking on this from a personal point of view, but I am looking at the next generation of children and how much they’ll benefit from this research, not taking the huge quantity of drugs to treat cystinosis will allow them and their families to live as enjoyably and normally as is possible.  

“What we learn through the prodrug research could possibly one day assist in the treatment of other diseases, such as Huntingdon’s Disease, Cystic Fibrosis and Non-alcoholic Fatty Liver Disease (NAFLD).”

The new project to develop cystinosis-specific PROMs, led by Dr Yitka Graham, complements and extends the work being carried out already at the University of Sunderland by a multidisciplinary team, involving Doctors Lisa Frost, Peter Dawson, Noel Carter and Paul Hambleton, headed up by Professor Roz Anderson, who was this month named as the winner of a STEM award at the Network North East Woman Entrepreneur of the Year Awards 2016.

Dr Graham said: “Jonathan’s strong and sustained commitment to improving the lives of those who live with cystinosis is a constant source of inspiration to the research team at Sunderland. His participation in our PROMs project is crucial to understanding and embedding the patient voice into our research and helps to make sure the resulting PROMs are directly relevant to cystinosis patients.”

 

L - R

Paul Hambleton (Senior Lecturer, University of Sunderland)

Roy Forsyth (Past Chair of the Cystinosis Foundation UK Trustees)

Neil Hutchison (Chair of the Cystinosis Foundation UK Trustees)

Dr Lisa Frost (Post-doctoral researcher (CF UK funded), University of Sunderland)

Dr Noel Carter (Reader, University of Sunderland)

Roz Anderson (Professor, University of Sunderland)

Vicky Forsyth (Roy's wife)

Dr Peter Dawson (Post-doctoral researcher (CF UK funded), University of Sunderland)