A Rare Lysosomal Storage Disease

New Blood Test for Niemann-Pick Type C

New Blood Test for Niemann-Pick Type C

Contributed by reader Jenni Heavey

Researchers at the University of Oxford in the UK have developed a new blood test to help people diagnosed with the lysosomal storage disorder, Niemann-Pick Disease type C (NPC). The progressive and fatal inherited disease occurs in one in every 150,000 children and is a cholesterol metabolism disorder. Affected persons are unable to break down the cholesterol and other lipids in their body so this leads to an accumulation in the liver and spleen and a build- up of fat in the brain. It causes delayed motor skills in infants, lung and liver failure, ataxia, seizures and memory loss. The disorder results in a gradual loss of neurological functioning and leads to dementia. For this reason it is sometimes referred to as ‘Childhood Alzheimers’. It is always fatal. Life expectancy depends upon when the condition presents itself. Children can develop symptoms from birth but it may not manifest until the teen years.

Research into NPC

Due to the fact that NPC is so rare, it can be difficult to obtain funding for research. In the UK, where the new blood test was developed, there are only 100 children who have been diagnosed with NPC so there are few treatments and no cures. This is an agonizing situation for parents and loved ones who are forced to watch their children decline and can do very little about it. Some parents have become their children’s researcher and set out on quests to discover a cure for themselves. This situation isn’t acceptable and it’s vital that more money is put into NPC research and more publicity is given to it so that the general public know more about cholesterol metabolic disorders and the plight of those who have them.

New Blood Test

Now, the children’s charity Action Medical Research has funded Oxford University’s work in formulating the blood test. The team, led by Professor Platt, has identified a biomarker that can be used to determine how quickly the child’s disease is progressing and how well they have responded to treatment. The researchers are hopeful that the test could be used as a diagnostic tool so that the condition can be identified sooner, leading to better treatment and disease monitoring.

Professor Platt said

“We hope that the new blood test will benefit people with NPC of all ages – babies, children and adults. 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.”

This is significant because of the pitifully few treatment options available to affected families and it may represent the first step towards a successful treatment or cure.

Currently the only way to diagnose a child with NPC is by doing skin biopsies to see how the skin stores cholesterol. A DNA test to look for the two genes associated with NPC may also be done.

Current Treatments

The only treatments available at this time are medications to control seizures and other symptoms and Miglustat, a drug developed in recent years by Oxford Glycosciences. It was originally developed to treat patients with Type 1 Gaucher Disease (GD1), a disease in which lipids accumulate in cells and organs. As this drug benefited GD1 patients, tests were done to see if it would also benefit NPC patients and it is now used as a disease modifying agent for NPC.

A low cholesterol diet is also recommended to try and delay the accumulation of cholesterol but there is no scientific evidence that this dietary approach is effective. Statins are also given. Physical therapy and massage can be done to maintain muscle strength for as long as possible and as a pain killing method.

If the blood test is used as a diagnostic or screening tool it could potentially be used before a patient develops any symptoms, allowing medications to be started straight away and possibly delaying the onset or lengthening the lifespan of the child. Until gene therapy advances and offers a permanent cure, this is a step in the right direction.


Citations and further useful reading:

Niemann-Pick Children’s Fund, accessed July 7, 2014,

Niemann-Pick Disease, University of Maryland Medical Center, accessed July 7, 2014,

Important New Blood Test for Devastating Rare Disease, Action Medical Research for Children, accessed July 7, 2014,

Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker, Danielle te Vruchte et al, J Clin Invest. 2014;124(3):1320–1328, accessed July 7, 2014, doi:10.1172/JCI72835,

Effective Ways to Treat Oxycontin Addiction, treatment4addiction, accessed July 7, 2014,

Understanding NPC, Niemann-Pick Type C Research, University of Notre-Dame, accessed July 7, 2014,

Patterson MC et al, Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007 Sep;6(9):765-72, accessed July 7, 2014,

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