Huntington's Disease Treatment Shows Promise After 30 Years

For 30 years, families affected by Huntington's disease have watched their loved ones decline with no way to stop it. That frustrating wait may finally be ending.

Researchers at University College London just reported the first treatment that actually slows Huntington's disease progression in patients. The gene therapy, called AMT-130, reduced cognitive decline in 29 patients over three years, particularly in processing speed and reading ability.

What makes this especially exciting is that a key brain health marker called neurofilament light actually dropped below starting levels. That suggests the therapy isn't just masking symptoms but actively protecting brain cells from damage.

Huntington's is a hereditary brain disease that typically strikes people between ages 30 and 50, right when they're raising families and building careers. It affects movement, thinking, and emotions, and patients usually live 15 to 20 years after diagnosis. About five in every 100,000 people worldwide have it.

Scientists discovered in 1993 that the disease comes from repeated DNA sequences (CAG) in a specific gene. Healthy people have fewer than 35 repeats. More than 39 repeats means you'll develop Huntington's. The more repeats you inherit, the earlier symptoms typically begin.

But here's the puzzle that stumped doctors: people with the same number of inherited repeats sometimes developed symptoms at completely different ages. A new study from UCL and Cambridge University just solved that mystery.

The research team followed 131 people for over four years, including 64 with the Huntington's gene about 24 years before symptoms were expected. They discovered that the CAG sequence keeps expanding in certain cells throughout a person's lifetime. The faster this expansion happens, the faster the disease progresses.

This was the first time scientists proved this connection in living humans. It explains why identical twins with Huntington's might develop symptoms years apart.

The same study caught early warning signs long before movement problems appear. Young adults with the gene showed subtle changes in attention and cognitive flexibility, brain functions that help us switch between tasks and stay focused. Brain scans revealed changes in specific circuits that control these abilities.

Why This Inspires

These discoveries mean future treatments could start even earlier, before any symptoms appear. Imagine someone learning they carry the Huntington's gene but knowing they can get treatment that preserves their cognition, emotions, and movement for years longer than their parents or grandparents did.

The research also opens doors for other brain diseases, since the attention circuits affected in early Huntington's are the same ones disrupted in ADHD. Understanding one condition helps unlock mysteries in others.

After three decades of waiting since identifying the gene, families finally have reason to believe their children might face a different future than they did.