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Breakthrough in fight against Huntington's disease

Breakthrough in fight against Huntington's disease

Breakthrough in fight against Huntington's disease

Huntington's disease is caused by a faulty gene.

In the study an experimental drug was injected into spinal fluid which was found to safely lower the levels of the toxic proteins that cause the disease.

The study confirmed the treatment worked as hoped and was well tolerated by the participants.

"I really think this is, potentially, the biggest breakthrough in neurodegenerative disease in the past 50 years", he told the BBC.

A "GROUND-breaking" drug trial has offered new hope to people with Huntington's disease.

Tests show his sister Sandy and brother Frank will develop the condition.

"It's so hard to have that degenerative thing in you".

Professor Snell was part of the global team that identified the gene mutation that causes Huntington's in 1993.

But a genetic error corrupts the protein and turns it into a killer of brain cells.

The drug, which is made of artificial DNA, is created to silence the problem gene.

The instructions for making huntingtin are locked away inside the DNA in a cell's nucleus. Theoretically, you could tweak a problematic gene so it makes the right proteins That's the approach of gene therapies like those already approved for certain types of cancer and genetic diseases like Hunter Syndrome and junctional epidermolysis bullosa.

The research is supported by The National Institute for Health Research (NIHR) University College London Hospitals Biomedical Research Centre. One fear was the injections could have caused fatal meningitis.

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Tabrizi began this first-ever human trial of a huntingtin-lowering drug in late 2015, following over a decade of pre-clinical development.

For the first time, scientists have discovered a drug which can cure by stopping the progression of Huntington's disease.

Huntington's patient Michelle Dardengo, of Vancouver, B.C., watched six members of her family die of the disorder.

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"The Huntington's study also showed that the high urea levels occurred before dementia sets in, which could help doctors to one day diagnose and even treat dementia, well in advance of its onset".

The animal research suggests it would. The success of the human trials echoes the earlier animal trials which not only showed a slowing of the disease but even some recovery of motor function.

Mr Allen added: "I'm the luckiest person in the world to be sitting here on the verge of having that [a treatment]".

"That sounds like hyperbole - in a year I might be embarrassed by saying that - but that's how I feel at the moment".

The protein synuclein is implicated in Parkinson's while amyloid and tau seem to have a role in dementias. That trial is now being planned. The drug, called Ionis-HTTRx, works by intercepting the messenger molecule and destroying it before the harmful protein can be made, effectively silencing the effects of the mutant gene.

"The case for these is not as clear-cut as for Huntington's disease, they are more complex and less well understood".

"My family and my children, they are very excited, and very supportive".

The results of the present trial are being prepared to be presented at scientific meetings and published in scientific journals.

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