Funding for ground-breaking Albinism research 'massive'
A Liverpool dad whose daughter has the condition has welcomed the news
A Liverpool dad whose daughter has a genetic condition that affects her eyesight says news of 'ground-breaking research' aimed at improving her vision is 'massive'.
Joe Marsden's two-year-old daughter Raya has albinism. It affects the production of melanin – pigment which colours eyes, skin and hair.
It can also affect the development of retinas in babies, making their eyes very sensitive to light and leaving them with severe sight problems as they grow up.
Dr Helena Lee from the University of Southampton is leading a research project called 'OLIVIA'. She has been granted £542,000 from the Medical Research Council to take her research a step further and work towards a clinical trial involving babies, to test a potential treatment.
Joe's daughter has to wear glasses for short-sightedness and to protect her eyes.
Joe said:
"Raya’s Albinism diagnosis was a complete surprise to us, as none of our other three children had been born with this condition. Diving into the world of Albinism has really helped us understand the incredible work that is going on in research and the amazing people working behind the scenes to make a difference.
"News of this new funding to allow trials to go ahead is fantastic. Along with the money I and others have raised, I hope it will give a massive boost to efforts to develop a treatment and help other young children in the future in the same situation as Raya."
Joe has helped to raise money for this research by completing seven marathons, in seven cities, for Gift of Sight.
Between one in 12,000 and one in 15,000 people in European countries have Albinism. Among other effects, it is associated with a deficiency in the chemical L-DOPA, which is essential for normal retinal development. This deficiency contributes to significant visual impairment in affected children.
Over several years, Dr Lee has investigated whether replacing L-DOPA could positively influence eye development. She has found a drug called Levodopa, which is commonly used to treat Parkinson’s Disease, which she hopes could hold the key.
Given orally to infants, in specific doses under controlled conditions, Levodopa may encourage normal retinal development in babies with Albinism – however, the treatment window is narrow.
Dr Lee said:
"We have spent years researching how we can help children with Albinism to improve their chances of growing up with better sight. We believe we’ve found a treatment which will help them, and this award means we can start testing this in the real world.
"We aim to initially use this funding to run a small scale trial with around 10 infants. Later we’d hope to run a larger one and also monitor the children’s progress as they grow up. We want to transform how we treat Albinism in children while also setting an important precedent for other paediatric eye diseases.
"With some eye conditions, intervention to treat children is needed before they reach the age of around eight.
"In children with Albinism, we believe this window is even narrower – with treatment required before they are two years old."
It's hoped that, if successful, the OLIVIA study could also pave the way for identifying and implementing new therapies for other childhood eye conditions.