Huntington’s disease treated successfully for first time in UK gene therapy trial

Surgical procedure to treat devastating illness slowed progress of disease by 75% in patients after three years

Huntington’s disease, a devastating degenerative illness that runs in families, has been treated successfully for the first time in a breakthrough gene therapy trial.

The disease, caused by a single gene defect, steadily kills brain cells leading to dementia, paralysis and ultimately death. Those who have a parent with Huntington’s have a 50% chance of developing the disease, which until now has been incurable.

The gene therapy slowed the progress of the disease by 75% in patients after three years.

Prof Sarah Tabrizi, the director of University College London’s Huntington’s disease centre, who led the trial, said: “We now have a treatment for one of the world’s more terrible diseases. This is absolutely huge. I’m really overjoyed.”

The drug, which inactivates the mutant protein that causes Huntington’s, is delivered to the brain in a single shot during a 12- to 20-hour surgical procedure, meaning that it will be expensive. The breakthrough is sending ripples of hope through the Huntington’s community, many of whom have witnessed the brutal impact of the disease on family members.

The first symptoms, which typically appear when the affected person is in their 30s or 40s, include mood swings, anger and depression. Later patients develop uncontrolled jerky movements, dementia and ultimately paralysis, with some people dying within a decade of diagnosis.

With treatment, people would be able to work and live independently for significantly longer, Tabrizi said, and the dramatic impact of the therapy raises the possibility that it could prevent symptoms occurring if given at an earlier stage.

It is estimated that there are between 6,000 and 10,000 people with Huntington’s disease in the UK, and at least another 20,000 who are carriers of the faulty gene, meaning they are likely to develop it. However, only about a fifth of those in families affected by Huntington’s choose to test for the gene because current treatments only help with symptoms rather than slowing the disease’s relentless progression.