Huntington’s disease breakthrough

08 January 2018

Researchers in Birmingham are part of a global trial that has been described as the biggest breakthrough in neurodegenerative diseases in 50 years.

The first in-human trial of IONIS-HTTRx, a drug for those with Huntington’s disease, safely reduced the amount of the toxic protein, huntingtin, the spinal fluid of people with the disease.

A joint venture between the Birmingham Huntington’s disease clinic, part of Birmingham and Solihull Mental Health Foundation Trust (BSMHFT), and the Wellcome Trust NIHR Clinical Research Facility (CRF), helped recruit several people to the global trial, including the youngest participant.

Nine centres across Canada, Germany, and the U.K have recruited 46 patients to the study, which was led by researchers at University College London (UCL).

The study injected IONIS-HTTRx into the fluid that bathes the brain and spinal cord.

The drug helps to reduce a protein in the brain called huntingtin before it is corrupted and leads to Huntington’s disease.

The 46 participants can continue taking the drug as part of the next phase of trials, which will test whether the disease can be slowed, or permanently prevented, by treating carriers of Huntington’s disease before they develop any symptoms.

Professor Hugh Rickards, Consultant in Neuropsychiatry, said: “The results of this trial have been excellent, with no serious adverse effects.

“Huntington’s is a cruel disease, affecting about 8,500 people in the U.K, so I’m cautiously optimistic about the results of this trial.

“We’ve known for several years that the build-up of the huntingtin protein leads to the symptoms of Huntington’s disease  but this study suggests we could stop that build-up, which is very exciting.”

Huntington’s is a progressive disease that affects patients in a variety of ways, including their movement, behaviour, memory and ability to think clearly.

Those with Huntington’s disease have a 50% chance of passing it on to their children, with a genetic test available for those who wish to find out.

The full details of the trial, developed by Ionis Pharmaceuticals, will be presented to scientists and published next year.