Breakthrough: Gene Therapy Slows Huntington’s Disease by ~75% for First Time

Doctors say they have successfully treated Huntington’s disease, one of the most terrible and debilitating illnesses, for the first time.

The illness is familial, persistently destroys brain cells, and resembles a cross between Parkinson’s, motor neurone disease, and dementia.

As they explained how data indicates the disease was halted by 75% in patients, an emotional study team started crying.

According to Prof. Sarah Tabrizi, who spoke to News Source, this means that patients would have decades of “good quality life” after therapy, as opposed to the deterioration that would often occur in a year.

During 12 to 18 hours of delicate brain surgery, a form of gene therapy is administered as the new treatment.

Given that Huntington’s disease often kills a person within 20 years of the onset of symptoms, which typically start in the 30s or 40s, early treatment may be able to stop symptoms altogether.

The findings were deemed “spectacular” by Prof. Tabrizi, director of the University College London Huntington’s Disease Centre.

“We never in our wildest dreams would have expected a 75% slowing of clinical progression,” she stated.

Although none of the individuals receiving treatment are being named, one has returned to work after being medically retired. Even though they are supposed to require a wheelchair, other study participants are still walking.

The cost of treatment is probably going to be high. But with a sickness that strikes people in their prime and destroys families, this is a time of genuine hope.
There is a family history of Huntington’s disease in Jack May-Davis. Like his father, Fred, and grandmother, Joyce, he carries the defective gene that causes the illness.

“Really awful and horrible” is how Jack described his dad’s unstoppable fall.

Fred’s late 30s saw the onset of the symptoms, which included behavioral and gait problems. Before passing away in 2016 at the age of 54, he eventually required round-the-clock palliative care.

Jack is a thirty-year-old clerk for a barrister, recently engaged to Chloe, and has participated in research at UCL to change his diagnosis to a positive.

But up until tonight, he had always known that he would suffer the same fate as his father.

He now claims that he is “overwhelmed” by the “absolutely incredible” discovery and can now look forward to a future that “seems a little bit brighter, it does allow me to think my life could be that much longer.”

An mistake in the huntingtin gene, a section of our DNA, is the cause of Huntington’s disease.

You have a 50% risk of inheriting the mutated gene and later developing Huntington’s disease if one of your parents has it.

This mutation makes the huntingtin protein, a normal protein required by the brain, a neuron killer.

In a single dose, the medication aims to permanently lower levels of this harmful protein.

The treatment combines gene therapy and gene silencing technologies in a state-of-the-art genetic medicine approach.

It begins with a harmless virus that has been modified to include a unique DNA sequence.
Using real-time MRI scanning, a microcatheter is guided to two brain regions—the putamen and the caudate nucleus—to inject this deeply into the brain. Neurosurgery takes 12 to 18 hours to complete.
After that, the virus delivers the new DNA fragment within brain cells, where it becomes active, much like a little postman.
As a result, neurons become a factory for creating therapies to prevent their own demise.
In order to create mutant huntingtin, the cells generate a tiny piece of genetic material called microRNA, which is intended to intercept and block the messenger RNA—a type of genetic material—that is transmitted from the cells’ DNA.

This results in lower levels of mutant huntingtin in the brain.

Limitations & Challenges

While the news is promising, there are several caveats and hurdles to address:

1. Complexity of surgery
   The procedure is invasive, requiring brain surgery guided by MRI. That limits which patients are eligible and the number of centers capable of performing it. Indiatimes+1

2. Cost and access
   Gene therapies are typically expensive, and there is concern about how affordable and accessible this will be for patients, especially outside high-income settings. Indiatimes+1

3. Long-term safety
   Although 36-month results look very promising, longer follow-up is needed to confirm safety over many years, durability of effect, and whether it prevents late-stage symptoms. upday.com+1

4. Not a full “cure” yet
   It slows progression significantly but does not appear to reverse all damage already done. Earlier intervention likely yields better outcomes. Full elimination of symptoms or complete reversal remains to be demonstrated. Indiatimes

5. Eligibility
   Because of the surgery’s demands, only some patients may qualify (based on stage of disease, general health, brain structure, etc.). Indiatimes