Huntington’s Disease Successfully Treated For First Time With Experimental Gene Therapy

Last Updated:September 25, 2025, 01:15 IST

Gene therapy slowed Huntington’s disease progression by 75 percent in a landmark trial, with patients showing improved cognition and mobility three years after treatment.

The trial involved 29 patients with symptomatic Huntington’s disease. (Representational Image)

Doctors said that Huntington’s disease has been successfully treated for the first time, following a landmark clinical trial that slowed the progression of the fatal disorder by up to 75%. The treatment, developed by the biotechnology company uniQure, involves a one-time gene therapy delivered through 12 to 18 hours of neurosurgery. A modified virus is infused deep into two regions of the brain- the caudate nucleus and the putamen- where it delivers DNA designed to reduce production of the toxic huntingtin protein that destroys brain cells.

Trial data released by the company, but not yet peer-reviewed, showed that three years after treatment, patients had experienced a 75% slowing of the disease based on combined measures of cognition, motor function and daily living skills. Normally, this level of decline would be expected in one year but treated patients experienced it over four years.

The data also showed biological evidence of benefit. Levels of neurofilaments- proteins in spinal fluid that increase as brain cells die- were lower than at the start of the trial. Prof Ed Wild, consultant neurologist at University College London Hospitals said, “This is the result we’ve been waiting for. The magnitude of the effect is breathtaking.”

Prof Sarah Tabrizi, director of the University College London Huntington’s Disease Centre, called the results “spectacular”, adding, “We never in our wildest dreams would have expected a 75% slowing of clinical progression.”

The therapy is thought to be long-lasting, as brain cells do not regenerate in the same way as other tissues. However, some patients experienced inflammation linked to the viral delivery system, leading to headaches and confusion, though these were resolved with steroids.

The trial involved 29 patients with symptomatic Huntington’s disease. Some reported notable improvements: one who had retired on medical grounds returned to work while others maintained mobility longer than expected.

Huntington’s is an inherited condition caused by a mutation in the huntingtin gene. If one parent carries the mutation, each child has a 50% chance of inheriting the disease. Symptoms usually appear in the 30s or 40s and the disease is typically fatal within two decades. Around 75,000 people are affected in the UK, US and Europe, with hundreds of thousands more carrying the faulty gene.

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