DEC 19, 2017 06:07 AM PST

A Breakthrough in Huntington's Disease Research

Huntington's disease is a devastating neurobiological illness that happens at the molecular level in the brain. The protein huntingtin can mutate, and when that happens, it doesn't fold correctly. While it might not seem like a big deal, it sets off a cascade of events and results in brain dysfunction that leads to a loss of cognition, a loss of motor function in large muscles, and eventually death.

It's not clear what causes these proteins to fold incorrectly, however when they do? A cluster begins in the brain. Picture a big wad of bubble gum tangled in long hair. Neurons get clumped together, and the toxic results are a disease for which there is no known cure. The Huntington's is progressive so while finding a cause is crucial, researchers also look for ways to slow the progression of the disease and allow patients to have a better quality of life for longer.

Researchers at University College London (UCL) have spent more than ten years working on a drug that targets the folded proteins and lowers the level of huntingtin is the bloodstream, slowing the progression of the disease. The first human clinical trial of the drug was not only safe and well-tolerated by the first group of study participants, but it also lowered huntingtin levels significantly.

Professor Sarah Tabrizi from the UCL Institute of Neurology led the trials which were and sponsored by Ionis Pharmaceuticals. There were a total of 46 participants in the study group, all with early onset of Huntington's disease. They were treated at nine study centers, with locations in the UK, Canada, and Germany. The drug is called IONIS-HTTRx but will likely be marketed under a more specific name if trials continue to go well. The drug is administered into the spinal fluid via injection, as it would not get through the blood-brain barrier any other way. Patients received the experimental drug or a placebo, in four doses initially. The trial was designed to track effectiveness as the dosage went up, so patients in the study had their dosages increased over the course of the research.

Professor Tabrizi stated, "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. The key now is to move quickly to a larger trial to test whether the drug slows disease progression."

In the study, levels of the mutant protein huntingtin were measured in the spinal fluid of the patients before they began treatment and after as well. The assay to detect the proteins was designed to be highly sensitive, for researchers to have confidence in the results. Depending on the dosage given, the study showed that the patients who received IONIS-HTTRx had significantly lower levels of the protein.

The research has not been published yet; however, Tabrizi and her team will be presenting their results at upcoming scientific meetings and submitting the work for peer review. Ionis partners with Roche Pharmaceuticals and recently announced that the participants who took part in the recent trials would be offered an opportunity to continue to use the medication. With Huntington's disease being so severe and affecting thousands of patients and their families, a drug that could slow the progression of it is almost a new lease on life for some. Check out the video to learn more about this breakthrough.

Sources: University College London, CityNews Toronto, Business Standard 

About the Author
  • I'm a writer living in the Boston area. My interests include cancer research, cardiology and neuroscience. I want to be part of using the Internet and social media to educate professionals and patients in a collaborative environment.
You May Also Like
NOV 12, 2018
Health & Medicine
NOV 12, 2018
Researchers find that obesity has a paradoxical effect on Cancer
Cancer therapy works differently in different people. Understanding what effects the individual body's response to treatment will be crucial for the development...
NOV 13, 2018
Neuroscience
NOV 13, 2018
Perineuronal nets and Epilepsy
Perineuronal nets (PNNs), a specialized extracellular matrix structures that surround the cell bodies and proximal...
DEC 03, 2018
Neuroscience
DEC 03, 2018
Brain size and Intelligence
Identifying the connection between the brain size to smartness has become much more plausible due to accuracy in estimating the brain size by using technologically advanced neuroimaging metho...
DEC 09, 2018
Health & Medicine
DEC 09, 2018
Treatment for Borderline Personality Disorder: Dialectical Behavior Therapy (DBT)
  Borderline personality disorder (BPD) is defined by the "Diagnostic and Statistical Manual, 5th Edition (DSM-5), as a chronic disorder tha...
JAN 09, 2019
Cell & Molecular Biology
JAN 09, 2019
New Findings on the Early Stages of Autism Spectrum Disorder
While the prevalence of autism spectrum disorder has grown, there is still a lot we don't know about what causes the disorder....
JAN 16, 2019
Cannabis Sciences
JAN 16, 2019
Effects of Low Cannabis Use in Teens on the Brain
A recent article published in the Journal of Neuroscience presents more data to suggest that marijuana use in adolescents is harmful to brain development a...
Loading Comments...