New Drug Could Offer First Treatment For Irreversible Huntington's Disease


A new drug has corrected the defect behind the neurodegenerative disease Huntington's for the first time in a patient trial, according to researchers at University College London.

The genetic mutation that causes Huntington's is heritable, meaning a child with a carrier parent has a 50/50 chance of developing the disease themselves.

"The results of this trial are of ground-breaking importance for Huntington's disease patients and families".

"The key now is to move quickly to a larger trial to test whether (the drug) slows disease progression".

On the trial, 46 patients had the drug injected into the fluid that bathes the brain and spinal cord.

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Huntington's is a terminal disease in which a mutant gene causes brain damage that gets gradually worse from middle age.

The unstoppable death of brain cells in Huntington's leaves patients in permanent decline, affecting their movement, behaviour, memory and ability to think clearly.

The results revealed that the treatment worked as hoped and was well-tolerated by the participants. It makes mutant form of protein that kills brain cells.

'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. One example is tau protein in Alzheimer's disease. In other neurodegenerative diseases, "there is at least one protein you would like to partially reduce", he said.

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

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The researchers note that the results of long-term studies, which are now underway, are needed to determine whether reducing the levels of the toxic protein can slow or prevent the disease in the long run - something which animal experiments have suggested.

Prof John Hardy, who was awarded the Breakthrough Prize for his work on Alzheimer's, told the BBC: "I really think this is, potentially, the biggest breakthrough in neurodegenerative disease in the past 50 years".

The success in the early-stage clinical trial has prompted Roche (ROG.S) to exercise its option to licence the product, called IONIS-HTT (Rx), at a cost of $45 million.

"The details of this study have not been peer-reviewed or published yet, so the scientific community simply does not know yet how robust the findings are", noted Tara Spires-Jones, deputy director of the Centre for Discovery Brain Sciences at the University of Edinburgh, who was not involved in the research.

Dr Philippa Brice, from the genomics research charity PHG Foundation, said: "This is a potential game-changer, not only for Huntington's disease patients but also for genomic medicine in general".

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