Breakthrough in fight against Huntington's disease

Posted December 13, 2017

Although there are some medications available for symptoms of the disease, no treatment now exists for the disease itself.

It's the first time that the defect that causes the fatal neurodegenerative disease has been corrected, and the results provide hope for a treatment, according to the University College London (UCL) scientists, BBC News reported Monday.

A historic point trial for Huntington's disease has declared positive outcomes, recommending that an exploratory medication could turn into the first to moderate the movement of the overwhelming hereditary ailment.

Patients ultimately die from complications including pneumonia and heart failure. Some people die within a decade of diagnosis.

Normally this contains the instructions for making a protein, called huntingtin, which is vital for brain development.

To deliver the drug to the brain, it must be injected into the fluid around the spine using a needle. "The fact that it does work is really remarkable".

A total of 46 patients with early-stage Huntington's disease took part in the trial conducted at nine centres in the UK, Germany and Canada. Each patient received four doses of either the drug, IONIS-HTTRx, or placebo. The team used an ultra sensitive assay to measure the concentrations of the protein in the patient's spinal fluid both before and after treatment.

At the end of the trail this week, the researchers announced that the drug was deemed safe and well tolerated among the human participants.

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"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". "This is probably the most significant moment in the history of Huntington's since the gene [was isolated]". "That's small data and still long way till it gets established as a drug for Huntington's". BBC quoted Sarah Tabrizi, lead researcher, as saying, "I've been seeing patients in clinic for almost 20 years, I've seen many of my patients over that time die..." "They may simply require a heartbeat each three to four months", she said.

"You know the last day was better than the next one's going to be".

The unexpected success raises the tantalising possibility that a similar approach might work for other degenerative brain disorders.

By changing the DNA sequence in the drug, researchers can target any mRNA, Wild said. "You can target any protein".

Dardengo was the first patient in this study. "I would prefer not to exaggerate this excessively, yet in the event that it works for one, for what reason wouldn't it be able to work for a considerable measure of them?"

As they looked at how the patients responded to the drug, the researchers found a dramatic drop in the amount of harmful protein in the spinal cord. There is also hope that the methodology can be applied to other neurodegenerative diseases, such as Alzhiemer's and Parkinson's.

She told the BBC: "The case for these is not as clear-cut as for Huntington's disease, they are more complex and less well understood". An estimated 100 per million Americans are living with this disease, for which there is no direct treatment.

An worldwide team of researchers, including Professor Garth Cooper from the University of Manchester, used both human brains, donated by families for medical research, and those of genetically modified sheep to investigate whether Huntington's disease is directly linked to brain urea levels.

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