'Major advances’ in Huntington's disease trial test

A study has discovered the world's first blood test that could predict when someone at risk is likely to get Huntington's disease, marking a ‘major advance’.

Huntington's disease, which affects approximately 1,000 people in the UK, is an inherited and incurable brain disorder that is currently fatal. A potential 25,000 others in the UK are believed to be at risk as the condition is passed on through genes, meaning children who inherit a faulty gene from parents have a 50 per cent chance of getting the disease in later life.

Printed in the Lancet Neurology, the study, which looked at 200 people with genes for Huntington's disease and 100 people not at risk, says that the prototype test could help in the hunt for new treatments as it tracks how quickly damage to the brain occurs.

Conducting several tests over three years, the researchers analysed how Huntington's disease affected people's thinking skills and movement as the condition became more severe, as well as measuring neurofilament light chain (NFL), a substance released from damaged brain cells.

The study revealed that levels of the brain protein were high in people with Huntington's disease and were even elevated in people who carried the gene for Huntington's disease, with NFL levels rising as the condition worsened and as people's brains shrank over time.

Researchers suggest that the blood test could be particularly helpful when checking if new treatments show any signs of being able halt the progress of the condition, and argue the method could be quicker and cheaper than current methods of measuring the progress of the disease - such as invasive tests of spinal fluid and brain scans.

Dr Edward Wild, from University College London, who were involved in the study, said: "Neurofilament light chain has the potential to serve as a speedometer in Huntington's disease, since a single blood test reflects how quickly the brain is changing. We have been trying to identify blood biomarkers to help track the progression of Huntington's disease for well over a decade and this is the best candidate we have seen so far."

Cath Stanley, chief executive of Hungtington's Disease Association, said: "This is a ground breaking piece of research that takes nearer to having a better understanding about Huntington's disease."