'Giant step forward' for Huntington's - the scientist behind the first gene therapy

"But the results were striking. On a standard rating scale used to assesses motor and cognitive functions and other measures of daily living, the scores of participants receiving the high dose dropped by just 0.38 points over three years. That's compared with a reduction of 1.52 points for people in a control group, meaning that the treatment slowed the rate of decline by 75%."

""It's a giant step forward," says Tabrizi, who was the trial's lead scientific adviser. "The dial has been shifted." The first-in-class gene therapy - called AMT-130 and developed by uniQure, a biotechnology company in Amsterdam - uses a harmless virus to deliver strands of genetic material into affected brain regions. Once there, the therapy switches off production of the faulty mutant huntingtin protein that slowly destroys brain cells."

AMT-130, developed by uniQure, delivers genetic material into affected brain regions via a harmless viral vector and suppresses production of the mutant huntingtin protein. A small clinical dataset involved 12 people who received a high dose and required invasive brain surgery. Over three years, treated participants' motor and cognitive scores declined by 0.38 points versus 1.52 points in controls, representing a 75% slower rate of decline. Spinal-fluid levels of a protein linked to neuronal death decreased in treatment recipients, providing molecular validation that aligns with the observed clinical benefit.

Read at Nature