Researchers to to Develop New Treatment for Rare Childhood Disease

A team of researchers has secured a six figure sum from Sparks, a leading children's medical research charity, to develop a revolutionary treatment for a rare genetic disorder.

Working between the university's School of Pharmacy and Life Sciences and the Institute of Health and Welfare Research, the team has received £101,554 from Sparks to develop a gel for the treatment of eye-related complications in patients with cystinosis. Cystinosis is a rare disease primarily affecting children where the amino acid cystine accumulates in all body organs. Unlike regularly functioning bodies where cystine is naturally broken down, cystinotic patients suffer from the formation of crystallised deposits which, if untreated, lead to kidney failure by ten years old, progressing to the liver and eyes, and death in the second decade of life.

Cystinosis research grant 1Cystine in the eye makes patients severely sensitive to light and induces chronic eyelid spasms. The current oral treatment for cystinosis, cysteamine which lowers the levels of the amino acid, has no effect on the eyes. As such, patients must use eye-drops on an hourly-basis to slow the accumulation of these crystal deposits.

The team of researchers, which comprises Dr Graeme Kay, Professor Donald Cairns, Dr Rachel Knott and Dr Kerr Matthews, have worked collaboratively for over five years, studying cystinosis - which currently affects around 150 children in the UK - and formulating novel approaches to its treatment.

The Sparks research grant will allow them to develop and evaluate a new approach for the treatment of the eye-related complications associated with cystinosis: an eye gel that is intended to reduce pain levels and the intense dosing schedule; increase patient compliance; and ultimately improve the patient's standard of life.

"The difficulty with the current treatment of cystinosis is the unpleasant and time-consuming natures of the medicines themselves," explains Dr Kay. "For example, the oral treatment is very unpalatable and therefore the compliance of patients, especially children, has always been problematic. Finding ways to get over this hurdle has been a core motivational factor for the team as it is only through a strict treatment regime that this debilitating condition can be controlled.

"Much like the research we have put into camouflaging the taste of cysteamine, the eye gel we aim to develop will hopefully make it far easier for patients to follow a regular dosage schedule that doesn't eat into their lives. As such, this funding from Sparks is not only most welcome, but vital in helping us to improve the lives of sufferers and revolutionise the ways in which they manage the condition."

Cystinosis research grant 2
news has been welcomed by Roy Forsyth, the current chairperson of the Cystinosis Foundation UK. Roy's daughter, Lena, was diagnosed with the condition at seven months old. Now 10, Lena has shown incredible positivity in managing her condition and has, along with her dad and mother Vicky, helped raise both funds and awareness of it.

The family's relationship with the Robert Gordon University team is well established. Four years ago they helped raise funds for a new refrigerated centrifuge for the School of Pharmacy and Life Sciences that has enabled the team to accelerate their research into cystinosis.

Roy (39), who lives with his family in Mintlaw, Aberdeenshire, said: "We are delighted that SPARKS have made such a significant donation to RGU for this work. Creating an eye gel that may only have to be used once a day will make a great difference to the lives of people and their families with this rare condition. We are always glad to support the high quality work carried out by the team at the university."

John Shanley, chief executive of Sparks, said: "The development of an eye gel which is intended not only to relieve pain but which should be less time consuming to apply, has huge potential for improving the treatment of cystinosis and the lives of the children living with this rare condition. As a charity we give careful consideration to the research we fund, so are delighted that we can give our support to this innovative piece of work."

For further information on cystinosis and how to donate to the foundation, visit

For more information or to donate to Sparks, visit:


Picture captions:

Top: The Forsyth family visit the lab at the School of Pharmacy and Life Sciences

(Foreground - Lena Forsyth. Background - Vicky Forsyth, Ruby Forsyth (3), Roy Forsyth, Dr Graeme Kay)

High resolution images of the Forsyth family at the university lab are available on request from the communications office.


Notes for Editors:

For further information on the research team's work, along with more in-depth information on the development of the eye-gel , contact Communications Officer, Andrew Youngson at the details below.

Cystinosis is a rare genetic metabolic condition and occurs when the mechanism, which removes an amino acid called cystine, breaks down. It (cystine) then accumulates within body cells preventing these cells from functioning correctly. This initially leads to kidney problems and progresses to other parts of the body, including the thyroid gland, eyes and liver. Impaired growth is yet another symptom of the condition.

However, with better understanding of the condition, earlier diagnosis and current treatments, it is possible for sufferers to lead a longer, fuller life.

Sparks is a leading children's medical research charity that is dedicated to funding and championing pioneering research into any condition affecting mums-to-be, babies and children. Since 1991, the charity has committed over £20 million into pioneering research projects across a wide spectrum of medical conditions including childhood cancers, cerebral palsy, premature birth and spina bifida.

Through the research it funds, Sparks aims to improve the quality of life for children and families affected by serious illness or disability today, whilst seeking ways to better diagnose, treat and prevent these conditions in the future.

The cystinosis research team at Robert Gordon University's School of Pharmacy and Life Sciences is comprised of four members of academic staff, each with their own areas of interest:

  • Dr Graeme Kay. Recent research includes: The design and synthesis of novel prodrugs for the treatment of nephropathic cystinosis; The formulation of cysteamine as a dosage form for ophthalmic delivery.
  • Professor Donald Cairns. Recent research includes: Synthesis of novel prodrugs for the treatment of nephropathic cystinosis; Research within the area of anticancer chemotherapy.
  • Dr Rachel Knott. Recent research includes: Glucose-mediated regulation of gene expression; Nutrient mediated changes in intracellular communication and retinal endothelial cell response.
  • Dr Kerr Mathews. Recent research includes: The application of polymers in the pharmaceutical sciences, specifically the topical delivery of therapeutic agents to wounds. Other interests include the physical properties and applications of hydrogels in general drug delivery including topical ophthalmic gels.

Further information on each team member and their areas of research are available on request.

Issued by:
Andrew Youngson
Communications Officer (Faculty of Health and Social Care)

Robert Gordon University
AB10 1FR
Tel: 01224 262389