The first drug to target the known cause of Huntington's disease has reportedly passed acceptable safety tests.
The first human trial, led by University College London, has been described as a "game changer.”
No current cure
Huntington's disease is an inherited disease that leads to brain cell death. As it progresses, movement, learning, thinking, and emotions are affected.
Every child conceived naturally to a parent who carries the Huntington's gene has a 50% chance of inheriting it. The gene codes for a mutant protein known as huntingtin (mHTT) arelinked with the development of the disease. Those with the faulty gene may not have the disease for years, but eventually they will develop symptoms. This commonly happens between the ages of 30 and 50.
At the moment, there is no cure and patients are left to manage their symptoms as best they can.
Targeting the Huntington’s disease protein
In its first trial involving humans, scientists tested the drug IONIS-HTTRx in people with early Huntington's disease in the UK, Germany and Canada. There were 46 people in the trial and they were either given the drug or a placebo.
The researchers report that the drug, given via four injections into the spinal fluid, lowered levels of the harmful mutant huntingtin protein in the brain and nervous system.
They say this is the first time that this protein, which is known to trigger Huntington's disease, has been lowered in patients with the disease.
IONIS-HTTRx has been developed by IONIS Pharmaceuticals. But the drug manufacturer Roche is seeking to bring the drug to market and has paid $45 million for development rights.
Results of the trial should be treated with caution as they have yet to be published in a peer-reviewed journal. Further details are expected at future scientific meetings prior to publication.
However, the results have sent ripples through medical and scientific communities.
Philippa Brice, Ph.D., external affairs director of the PHG Foundation, which supports genetic techniques to improve health, says in a statement: "This is a potential game-changer, not only for Huntington's disease patients but also for genomic medicine in general.
"Though more work needs to be done, if gene silencing lives up to this promise we could be on the brink of some of the personalized treatments that patients with severe genetic diseases need so badly. But this will also raise further questions for society and for policy-makers about how best to use such a powerful technique."
Cath Stanley, chief executive of the Huntington's Disease Association, says in an emailed statement: "Today's announcement of the results of the trial are of ground-breaking importance to families affected by Huntington's disease.
"This is a great day for the Huntington's disease community."