Tests for Metabolic Diseases | Action Medical Research | Children's Charity

Important new blood tests for devastating metabolic diseases

First published on 3 July 2013

Updated on 3 July 2013

What did the project achieve?

“We have developed a new blood test for a rare and devastating illness called Niemann-Pick disease type C – or NPC,” explains Professor Frances Platt.

NPC is a progressive, inherited illness. Children with the disease develop a combination of distressing physical symptoms and learning disabilities, which gradually get worse over time. Sadly, the disease is normally fatal.

“We hope that the new blood test will benefit people with NPC of all ages – babies, children and adults,” explains Professor Platt. “It could potentially help when diagnosing the disease. Perhaps more importantly, it could also be used to monitor how someone’s illness is progressing over time. This could enable doctors to assess the benefits of experimental treatments – to find out whether a new drug seems to be working or not. It could also help when trying to identify what dose of a drug works best.”

So what are the next steps? “We plan to publish our results and continue using the blood test – to see how well it performs when monitoring the health of more children with NPC over the longer term,” says Professor Platt.

This research was completed on 28 February 2012

Glycosphingolipid lysosomal storage diseases are severe metabolic diseases, which typically affect very young children. These children endure a range of distressing symptoms, including blindness, deafness, and a relentless deterioration in physical and mental abilities, which often results in death. Researchers are investigating ways to monitor the benefits of potential new therapies

What's the problem and who does it affect?

How do you cope if your baby is diagnosed with a fatal disease?

This project focuses on glycosphingolipid lysosomal storage diseases. Sandhoff disease is one example. A baby with Sandhoff disease seems normal at birth, but within six months, parents may start to notice that something is wrong – their baby may not learn how to sit up properly, or play with toys. Sadly, most children with Sandhoff disease die at around three years of age after suffering distressing symptoms, such as blindness, seizures, and difficulties swallowing and breathing. They suffer mental and physical disabilities, which progressively worsen.

Caring for these children is time-consuming and draining. Parents need a great deal of strength and support. It can help to take one day at a time, focusing on giving the child the best possible quality of life, and trying to enjoy precious time together.

Other examples of these storage diseases include Tay-Sachs, Fabry, and Niemann-Pick type C disease. They can also begin in adulthood, when sufferers have to cope with a diverse range of symptoms, including physical disabilities, depression and dementia.

What is the project trying to achieve?

Measuring the benefits of new therapies

Many new therapies are currently being developed for both children and adults with storage diseases, but it’s difficult to monitor a patient’s response to therapy.

With funding from an earlier grant from Action Medical Research, the project team has already developed a range of simple, cheap and sensitive blood tests, which they think could be used to measure the benefits of new therapies. In this project, researchers are using the blood tests in a clinical trial of a new treatment called substrate reduction therapy.

People with Sandhoff disease, and Niemann-Pick type C disease, are being treated with a drug called miglustat. Researchers are investigating whether the changes they observe with the blood tests correlate with changes in the patients’ symptoms and with levels of miglustat in the patients’ bodies

What are the researchers' credentials?

Project LeaderDr F M Platt PhD
LocationDepartment of Pharmacology, University of Oxford
DurationThree years
Grant awarded31 October 2006
Start date1 November 2006
End date28 February 2012
Grant amount£150,824.00
Grant codeSP4203,GN1684

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The project leader, Dr Frances Platt, is a world expert in lysosomal storage diseases. Along with her colleagues, she developed the new drug-based substrate reduction therapy for these diseases. Dr Platt has an excellent track record of publication in this area and has co-edited the book ‘Lysosomal Storage Disorders of the Brain’, along with Prof Steven Walkley.

The project team comprises highly specialised, experienced and dedicated scientists who study different aspects of these diseases, spanning basic biochemistry and cell biology, through to the analysis of clinical samples. The group is housed in the Department of Pharmacology at the University of Oxford, which has excellent facilities in a state-of-the-art building.

Who stands to benefit from this research and how?

Letting people know whether their treatment is working

This project should reveal which of the blood tests give the best measure of a patient’s response to therapy. Researchers anticipate that clinicians will be able to use the tests when diagnosing and treating people with glycosphingolipid lysosomal storage diseases.

Clinicians would be able to use the tests to assess the benefits of new therapies. This would allow them to give patients valuable feedback on whether their therapy is working at the cellular level. The tests would also allow clinicians to tailor the dosing of a specific treatment to the needs of each patient.

The research will probably impact on increasing numbers of patients as time goes by, and more therapies enter clinical trials. Around 1 in 7,000 babies born alive go on to develop a lysosomal storage disease.1 At the moment, about 250-300 patients with a range of glycosphingolipid storage diseases are being treated with substrate reduction therapy. Other potential therapies are at the experimental stage.

Researchers believe their studies will also provide unique insights into the underlying mechanisms responsible for the progression of storage diseases, at a cellular and biochemical level. This could lead to better treatments in the future.


1. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of Lysosomal Storage Disorders. JAMA 1999;281:249-54.

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