Walking is simple. Most people don’t have to think about placing one foot in front of the other, but then most people don’t have Huntington’s disease.

I sit at the New Scientist Live 2017 expo, transfixed by the woman on the screen. She is not so fortunate. Limbs jerking uncontrollably, she is a puppet with knotted strings as she is guided down a white corridor. The video stops, a figure steps onto the stage and I am introduced to both Dr Ed Wild and his mission: finding a cure for this life-shattering disease, an ambition that may now be one step closer to reality.

Huntington’s disease (HD) is a neurodegenerative illness, belonging to the same family as Alzheimer’s and Parkinson’s. Within your cells are instructions called genes which are used to build proteins- little molecular machines that perform tasks in your body. HD arises when a faulty huntingtin gene (important for nervous system development) is inherited from either parent, causing an abnormally large huntingtin protein to be produced.
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The larger malfunctioning protein sticks to itself and other proteins like chewing gum. This particularly congregates and damages cells in the basal ganglia, part of the brain which is responsible for movement, planning and memory.

Individuals with the faulty huntingtin gene present symptoms between 30 and 50 years old. Although sufferers experience huge variation, movement, cognitive ability and behaviour are all typically affected. Early signs might be involuntary muscular movements, clumsiness and memory loss. Eventually swallowing, communicating and walking become near impossible and the disease is always fatal. All existing drugs can do is lessen the symptoms, meaning those diagnosed have a bleak future.

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The HD gene was discovered in 1993 and there is still no cure. However, that may be about to change. At the end of Dr Wild’s presentation, he offered some optimism. The results of a promising trial were soon to be released and the HD community were waiting with bated breath.

The breaking headline a few months later: for the first time in 25 years we may be a step closer to treating HD.

IONIS-HTTRx is the star of the show: a huntingtin-lowering drug that works by destroying mRNA, a messenger molecule that works as the middle man between genes and proteins. If mRNA is destroyed then the huntingtin protein cannot be produced. Within the trial, 46 patients had the drug injected into their spinal fluid in a procedure known as a lumbar puncture. The purpose of the study was only to ascertain if IONIS-HTTRx was safe; the trail too short and small to give meaningful data on symptom improvement. However, Professor Tabrizi (IONIS-HTTRx Global Chief Investigator) said:
“The results of this trial are of ground-breaking importance for Huntington’s disease patients and families. For the first time a drug has lowered the level of the toxic disease-causing protein in the nervous system, and the drug was safe and well-tolerated.”

Early 2019 will see the commencement of the stage 3 trail named GENERATION-HD1. 660 patients, 15 countries and 80-90 sites are involved. While it is far too early to praise IONIS-HTTRx as a miracle cure, the next few years will prove critical to HD families.  Maybe the outcome will mean no more people have to suffer as that woman in the video and so many others have.

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