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Important new blood test for Niemann-Pick disease type C, a devastating rare disease

A new blood test for a rare and devastating illness called Niemann-Pick disease type C (NPC) has been developed by a team of researchers led by Professor Frances Platt, University of Oxford.

The results of the research, funded by children’s charity Action Medical Research, are discussed in a paper now published in the Journal of Clinical Investigation.

NPC is part of a large group of over 50 rare, inherited diseases called lysosomal storage disorders. When lysosomes within the cell do not work properly waste molecules build up, leading to progressive damage to nerve cells. 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.

Unfortunately, NPC often goes undiagnosed, so although around 100 people in the UK are known to have the disorder, the real figure could be higher.

The team led by Professor Platt has identified a biomarker which they used to determine how a patient’s disease is progressing and how well it responded to treatment. This biomarker can now be used as a test to inform doctors in future clinical trials. It is hoped this will lead to better disease monitoring and treatment for patients.

“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.”

Today in the UK, there are thousands of families coping with the challenge of caring for a child with a rare disease. Research is the key to saving many of these children from a lifetime of suffering. Yet surprisingly, medical research into conditions that devastate children’s lives is poorly funded.

Source

As well as targeting rare diseases, Action Medical Research funds research tackling premature birth, treating sick and vulnerable babies, and helping children affected by disability, disabling conditions and infections. To be part of the next breakthrough and help change more children’s lives, get involved with Action Medical Research: http://www.action.org.uk/get_involved

Relative acidic compartment volume as a lysosomal storage disorder – associated biomarker, Frances M Platt, et al. The Journal of Clinical Investigation (2014) doi:10.1172/JCI72835.

Action Medical Research