Understanding a rare disease | Action Medical Research

Touching Lives - October 2012

Understanding a rare disease

Researchers funded by Action Medical Research have discovered a crucial marker in the body that will further understanding of a rare inherited disorder that can lead to death in childhood.

Niemann-Pick disease type C (NPC) is part of a large family of over 50 diseases called lysosomal storage disorders that affect how bodily cells break down waste material. When lysosomes within the cell do not work properly waste molecules build up, leading to progressive damage to nerve cells. This can have a devastating impact on both adults and children resulting in physical disabilities, depression and dementia that require extensive care and support.

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. At present, miglustat is the only drug approved in Europe for treating the neurological effects of NPC. However, a team of researchers in Oxford has made a pioneering discovery that is shedding light on this rare disorder.Dr Frances Platt and her team identified a biomarker – a biological indicator in the body that changes with disease progression and can be measured in the laboratory – 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.

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