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

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What did the project achieve?

“This study has advanced our understanding of the role of metals in lysosomal diseases, with a particular focus on Niemann-Pick disease type C (NPC),” says Professor Fran Platt of the University of Oxford. “We also made an unexpected discovery that led us to an existing drug that has potential for treating liver disease in babies with NPC.”

Niemann-Pick disease type C belongs to a group of over 70 rare inherited conditions known as lysosomal storage diseases.1 Many newborn babies with the condition will develop liver disease that may cause life-threatening complications within their first weeks of life. Those who survive will experience a range of other symptoms that get gradually worse as they get older – including problems with coordinating their movements, speech loss and progressive learning difficulties.

As well as waste recycling activities, lysosomes also play an important role in moving metals around inside cells. So Professor Platt carried out a series of laboratory experiments to investigate whether this process goes wrong in NPC disease.

“Our research suggests that there are abnormally low levels of iron in both laboratory models and patients with NPC – resulting in anaemia,” says Professor Platt. “We have also found changes in how the body handles copper – which builds up in the brain.”

“We are now planning further studies to investigate if drugs that are used for treating anaemia – or diseases that involve an overload of copper in the body – may also be useful for treating NPC disease,” she adds.

During the research, the team also made an unexpected discovery that led them towards an existing drug – a bile acid replacement treatment called ursodeoxycholic acid (URSO) – with the potential for treating the liver disease.

“We have since taken this drug into clinical testing in four patients with NPC –demonstrating that it could be a useful treatment,” says Professor Platt. “The next step is to test the effectiveness of this first liver-targeted treatment for NPC disease in larger clinical trials.”


  1. Platt FM et al., Lysosomal storage diseases. Nature Reviews Disease Primers 2018; 4, Article number: 27

This research was completed on

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 Leader Professor Fran Platt PhD, FMedSci
Project Location Department of Pharmacology, University of Oxford
Project duration 3 years
Date awarded 14 August 2013
Project start date 1 March 2014
Project end date 30 September 2017
Grant amount £200,000
Grant code GN2157


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