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Lysosomal storage diseases: developing new treatments for these rare and devastating diseases

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Professor Fran Platt, of the University of Oxford, is leading research into three rare diseases that can cause severe disability. Children with these diseases experience a range of distressing symptoms that gradually get worse over time, including difficulties swallowing, physical disabilities, dementia, blindness and seizures. Sadly, most of the children don’t survive to adulthood. Dr Platt’s team aims to develop new treatments, with the aim of reducing children’s suffering and improving their lives.

How are children’s lives affected now?

The three diseases that Dr Platt’s team is researching are called Niemann-Pick type C (NPC), Sandhoff disease and GM1 gangliosidosis. They are all severely disabling.

“NPC typically afflicts babies and young children, greatly shortening their life expectancy,” says Professor Platt. “Often an early clinical sign is clumsiness, but this progresses, with children going on to experience major problems coordinating movements such as walking. The children slowly lose their speech and are unlikely to do well at school, as the disease causes a progressive decline in intellectual ability, with some symptoms being similar to those of Alzheimer’s disease. Parents need a great deal of strength and support, and it can help to focus on enjoying precious time together.”

While the other two diseases being studied cause a different mix of symptoms, they are just as devastating. All three fall into a group of over 60 inherited, genetic disorders called lysosomal storage diseases.

How could this research help?

Professor Platt’s team is investigating the disease processes that cause NPC, Sandhoff disease and GM1 gangliosidosis. The team is also exploring the potential of possible new treatments.

“We know that changes – or mutations – in certain genes cause these three diseases,” explains Professor Platt. “However, it’s not clear how those changes lead to the symptoms that children experience. We are investigating what goes wrong, building on preliminary evidence that for example in NPC iron levels in the body might be lower than normal, and copper levels higher.”

“Tried-and-trusted medicines are already used to correct abnormal iron and copper levels in people with other diseases,” continues Professor Platt. “We are performing laboratory studies to find out whether these medicines might also help children with NPC, Sandhoff disease and GM1gangliosidosis. If our results are promising, these medicines could be rapidly trialled in children, in the hope of slowing disease progression and improving quality of life.” 

Project LeaderProfessor Fran Platt PhD, FMedSci
Project LocationDepartment of Pharmacology, University of Oxford
Project duration3 years
Date awarded14 August 2013
Project start date1 March 2014
Project end date30 September 2017
Grant amount£200,000
Grant codeGN2157

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