SCIENCE ALERT – Researchers in the United Kingdom say they have successfully trialed what could become the world’s first gene therapy for Huntington’s disease – a fatal neurodegenerative disorder that is typically inherited.
While the results of the clinical trial are not yet formally published or peer reviewed, principal investigator and neuroscientist Ed Wild from University College London says the gene therapy, called AMT-130, “changes everything.”
The highest dose can apparently slow disease progression by as much as 75 percent over three years. It also led to a significant reduction in a biomarker of neurodegeneration, found in cerebrospinal fluid, which usually increases with disease progression.
“On the basis of these results, it seems likely AMT-130 will be the first licensed treatment to slow Huntington’s disease, which is truly world-changing stuff,” says Wild, who works at UCL’s Huntington’s Disease Center, the largest Huntington’s clinical group in Europe.
Huntington’s is caused by a single defect in the gene HTT, discovered in 1993, which gradually destroys the body’s ability to function. It does so by making a toxic version of the huntingtin protein, which attacks neurons in parts of the brain involved in voluntary movement, thinking, and behavior.
When visible symptoms take hold, typically in mid-adulthood, patients generally have just 10 to 30 years to live. A parent with Huntington’s has a 50 percent chance of passing the disease on to their children.
For roughly a decade, researchers at uniQure, the company behind the world’s first approved gene therapy, have been investigating if a similar method could work as a treatment for Huntington’s.
The company’s novel drug was tested by neurologists in the United Kingdom, as it involves major brain surgery. The idea is that when high-dose AMT-130 is injected into the brain, neurons take up the custom-made DNA permanently.
The genetic information contains instructions that stop cells from making the mutant huntingtin protein …
