Scientists have pulled off a medical breakthrough that’s giving hope to thousands of families. Huntington’s disease—a brutal inherited disorder that destroys brain cells and, until now, had no cure—has finally been slowed using experimental gene therapy.
Doctors managed to slow Huntington’s disease progression by 75% in patients after a single gene therapy treatment during brain surgery. The clinical trial included 29 patients and produced impressive results after three years.
This means the decline that usually takes place in a single year would now take four years after treatment. That’s a massive difference for patients and families staring down this disease.
The treatment uses advanced gene therapy, delivered over 12 to 18 hours of delicate brain surgery. Researchers at University College London led the charge, hoping this approach could hand patients decades of better living.
The therapy targets the faulty gene behind the disease, knocking down toxic protein levels in the brain. It’s an audacious approach, but so far, it’s working.
Key Takeaways
- Gene therapy slowed Huntington’s progression by 75% in a trial with 29 patients.
- The treatment is a single dose, delivered via complex brain surgery lasting 12–18 hours.
- The company aims to seek US approval in early 2026, but the treatment will be pricey and needs specialized surgery.
Breakthrough Gene Therapy for Huntington’s Disease
The gene therapy AMT-130 is the first to slow Huntington’s disease by 75% in clinical trials. The collaboration between University College London and uniQure marks a huge leap for this fatal genetic disorder.
AMT-130: The First Successful Treatment
AMT-130 works by introducing new DNA into brain cells through a sophisticated delivery system. The therapy uses harmless virus particles to deliver custom DNA instructions directly into neurons.
Doctors inject the treatment into the striatum, a brain region hit hard by Huntington’s. They use stereotactic surgery and live MRI guidance to hit the target precisely.
Once the virus is inside neurons, it releases its DNA. This DNA becomes a permanent part of the cell, producing RNA molecules designed to destroy the toxic huntingtin protein.
Key Treatment Features:
- One dose, expected to last for life
- Targets the root cause
- Requires complex brain surgery
- Uses a modified virus as the delivery tool
The therapy basically switches off the faulty gene that causes Huntington’s. That blocks cells from making the protein that wrecks the brain.
Collaboration Between University College London and uniQure
University College London teamed up with Dutch-American company uniQure to create and test AMT-130. The UCL Huntington’s Disease Centre is Europe’s largest Huntington’s clinical research group.
Professor Sarah Tabrizi at UCL served as the lead scientific advisor, and Professor Ed Wild was the principal investigator at the UCL site.
UCL researchers have been at the heart of Huntington’s discoveries for decades. They helped identify the Huntington’s gene in 1993 and led the first huntingtin-lowering drug trial in 2015.
uniQure provided the gene therapy tech and sponsored the global trial. They plan to submit an FDA application in early 2026.
UK patients had their surgeries at University Hospital Wales in Cardiff, with the Advanced NeuroTherapies Centre team handling the tough procedures.
Key Findings From the Gene Therapy Trial
The Phase I/II trial followed 29 patients for up to 36 months. Twelve of them received the high dose and finished the full three-year study.
Researchers compared these patients to a control group from the Enroll-HD natural history study. This allowed them to see just how much the treatment slowed things down.
Primary Results:
- 75% reduction in overall disease progression
- Marked improvement in motor function
- Better cognitive and functional scores
- Lower levels of brain damage markers
The trial showed statistically significant slowing of Huntington’s for the first time ever. Patients stayed stable in ways doctors hadn’t witnessed before.
Brain fluid tests found lower neurofilament light protein, which signals nerve damage. Normally, this protein jumps 20–30% over three years in Huntington’s, but not here.
One patient even went back to work after retiring for medical reasons. Overall, side effects were manageable and the treatment was well-tolerated.
Understanding Huntington’s Disease
Huntington’s disease is a brutal genetic disorder that destroys brain cells. It combines symptoms of dementia, Parkinson’s, and motor neuron disease.
The condition follows a predictable inheritance pattern. It causes relentless brain cell death over time.
Causes and Genetic Inheritance
Huntington’s disease starts with a mutation in the huntingtin gene. This error creates a faulty protein that’s toxic to brain cells.
If one parent has the mutated gene, each child faces a 50% chance of inheriting it. The condition runs straight through families, generation after generation.
Kids who get the faulty gene will eventually develop the disease. The mutation is dominant, so just one copy is enough—unlike recessive genetic conditions that need two bad copies.
Genetic testing can spot people carrying the mutation before symptoms show up. Still, a lot of folks skip testing because, honestly, who wants to know their fate that early?
Impact on Brain Cells and Symptoms
The mutated huntingtin protein acts like a killer in certain brain regions. It especially targets the caudate nucleus and putamen, which are crucial for movement and thinking.
Brain cell death triggers a messy mix of symptoms:
- Movement problems: Jerky, uncontrolled motions and lost coordination
- Cognitive decline: Memory loss, trouble focusing, and dementia-like changes
- Behavioral changes: Mood swings, depression, personality shifts
- Speech difficulties: Slurred words and trouble swallowing
The toxic protein builds up in brain cells over years. That’s why symptoms don’t show up right away.
Different brain regions die at different rates, creating that complex mix of movement, thinking, and mood problems that define Huntington’s.
Disease Progression and Prognosis
Symptoms usually show up in a person’s 30s or 40s, but timing can vary. Early signs are often subtle behavior or movement changes that get worse over time.
The disease tends to follow a set pattern over about 20 years:
| Stage | Duration | Main Features |
|---|---|---|
| Early | 3-5 years | Mild movement changes, mood swings |
| Middle | 5-10 years | Obvious movement problems, cognitive decline |
| Late | 5-10 years | Severe disability, need for full-time care |
The disease is usually fatal within two decades of symptoms starting. Patients slowly lose the ability to walk, speak, and care for themselves.
No current treatments can slow or stop the disease. Medications only help manage symptoms for a while.
It’s a relentless disease, and families often end up providing round-the-clock care in the final years.
Details of the Clinical Trial and Surgical Approach
The breakthrough treatment involved 29 patients who underwent brain surgery lasting 12 to 18 hours. The trial used cutting-edge tech to deliver therapy straight to specific brain regions.
Brain Surgery and Treatment Procedure
The surgery demanded serious precision and high-tech gear. Surgeons used live MRI scans to guide a microcatheter into two brain areas.
The target regions were:
- Caudate nucleus
- Putamen
The 12 to 18 hours of delicate surgery involved infusing a modified virus deep into these structures. The virus acted as a microscopic delivery van for the therapy.
It carried custom DNA sequences into brain cells. Once inside, the cells started making microRNA fragments that intercept harmful protein instructions.
This turns neurons into little treatment factories, cutting levels of the toxic huntingtin protein that kills brain cells.
Trial Participants and Methodology
The trial included 29 patients with confirmed Huntington’s. All had the faulty gene that causes progressive brain cell death.
UniQure ran the study over three years, tracking how patients fared as the months ticked by.
Researchers measured several key markers:
- Cognitive function
- Motor abilities
- Daily living skills
- Brain cell damage indicators
The company plans to apply for FDA approval in early 2026. First, they’ll focus on the US, then look to Europe.
Assessing Treatment Efficacy and Safety
After three years, the results showed a 75% drop in disease progression. This included cognitive, motor, and daily functioning abilities.
Spinal fluid tests confirmed brain cell preservation. Neurofilament levels, which usually rise as brain cells die, actually dropped.
Safety profile included:
- Some virus-related inflammation
- Headaches and confusion as side effects
- Issues resolved completely or with steroid treatment
One patient even went back to work after being forced to retire. Others kept walking, even though doctors had predicted they’d need wheelchairs.
The treatment seems to offer lasting protection since brain cells aren’t regularly replaced like other tissues.
Key Individuals and Institutions Behind the Breakthrough
The gene therapy for Huntington’s disease came from a partnership between leading academic researchers and biotech companies. Professor Sarah Tabrizi led the clinical research, while uniQure developed the tech that made it possible.
Sarah Tabrizi and Her Leadership Role
Professor Sarah Tabrizi leads the University College London Huntington’s Disease Centre. She ran the clinical trial that managed a 75% slowing of disease progression.
Tabrizi called the results “spectacular” during a pretty emotional data presentation. She admitted, “never in our wildest dreams would we have expected a 75% slowing of clinical progression.”
Her team actually got tearful describing how this treatment could give patients decades of “good quality life.” Tabrizi stressed that this is just the beginning for new therapies.
Current Research Focus:
- Working with young people who carry the gene but don’t have symptoms
- Planning prevention trials to delay or stop the disease entirely
- Developing treatments that can reach more patients
Research Team Highlights
Several institutions teamed up on this tricky gene therapy project. University College London brought clinical expertise and handled patient care for the challenging surgery.
Professor Ed Wild, a consultant neurologist at UCLH, played a major part in the trial. He called the results “breathtaking” and thinks the treatment “should last for life.”
uniQure, the biotech company, created the gene therapy technology and funded the research. Dr. Walid Abi-Saab, their chief medical officer, said he felt “incredibly excited” about what this could mean for families.
The trial included 29 patients who underwent a marathon 12 to 18-hour brain surgery. uniQure plans to apply for FDA approval in early 2026.
Future Outlook and Global Implications
This successful Huntington’s treatment opens doors for preventing symptoms in people at risk and could expand access if regulators approve it. UniQure plans to apply for US licensing in early 2026, and researchers are already thinking about preventive uses.
Potential for Earlier Intervention
Professor Tabrizi is now working with young people who have the Huntington’s gene but aren’t showing symptoms yet. These folks are sometimes called “stage zero Huntington’s” patients.
The first prevention trial will test if the disease can be seriously delayed or even stopped. Since Huntington’s usually appears in someone’s 30s or 40s, treating earlier could mean symptoms never show up at all.
This gene therapy might last a lifetime because brain cells stick around, unlike other tissues that keep renewing. Professor Wild expects the therapy “should last for life” since neurons don’t get replaced like blood or skin cells.
Key advantages of early intervention:
- Preventing symptoms before they start
- One treatment could last for decades
- Protecting brain cells before any damage
- Better quality of life, at least in theory
Plans for Regulatory Approval and Broader Access
UniQure will apply for a license in the United States in the first quarter of 2026. They hope to launch the drug later that year.
Talks with UK and European authorities will kick off in 2026, but right now, the focus is on the US market.
This treatment won’t be for everyone—at least not at first. The surgery is complicated and expensive, and only a few centers have the right teams.
Gene therapies usually come with a jaw-dropping price tag. The UK’s NHS already pays £2.6 million per patient for some gene therapies, like haemophilia B treatment. Honestly, that’s a lot.
Timeline for global access:
- 2026 Q1: US regulatory application submitted
- 2026 Q2: UK and Europe discussions start
- Late 2026: Possible US market launch
- 2027+: Maybe international expansion, fingers crossed
