Imagine having a hereditary, neurological condition that could cause your brain to rot slowly over a period of time, and there is no cure but only medicine to control the symptoms. That’s what Huntington’s disease patients faced after their diagnosis. After years of research, scientists have now discovered its treatment for the first time.
Something similar is the case with Jack May-Davis, now 30, who was only 19 when he discovered he had Huntington’s disease. He also lost two of his family members to this disease, including his father, who started showing symptoms in his mid-40s and very quickly required full-time care as the disease progressed.
Since finding out about this disease, Jack has been involved with trials at the National Hospital for Neurology and Neurosurgery (NHNN) at UCLH, contributing to this research.
With the successful trial of this research, Jack is overjoyed as he himself didn’t believe this much result could be possible in this timeframe and that it was possible for his treatment as well. And he thinks it is a huge moment for all those families who carry the Huntington’s disease gene.
In a moment of celebration, Prof Sarah Tabrizi, the director of University College London’s Huntington’s disease centre, who led the trial, said that we can now treat the world’s most terrible diseases and that this is absolutely huge, and she is overjoyed.
A breakthrough has been achieved in this field, and now doctors have successfully treated Huntington’s disease with new gene therapy, with 75 per cent slowing of disease progression just after 36 months.
What is Huntington’s disease?
It is an inherited condition that causes the brain to slowly lose function and eventually death. It affects the part of the brain that is responsible for voluntary movement and memory.
Huntington’s disease types:
- Adult onset – it’s the most common type, where symptoms arise after the age of 30.
- Early onset (juvenile Huntington’s disease)– it starts at an early age, during childhood or teenage years. This is a rare type.
What are its common symptoms?
As it is related to brain tissue damage, it affects both physically and mentally.
Its physical symptoms are: loss of coordination, uncontrolled movements like jerking or twitching, trouble walking, difficulty swallowing and slurred speech.
Mental symptoms can be emotional changes like mood swings, depression and irritability, trouble learning new information, problems with memory, focus and multitasking and difficulty making decisions and reasoning.
At first, its symptoms may not affect your daily life much, but eventually, over the years, it will make your daily chores hard to do and can severely affect your life.
What are the risk factors in Huntington’s disease?
As it is a genetic condition, if one of your parent has it, you have a 50% chance of inheriting it. And as most commonly the symptoms appear in adulthood, it makes it even worse. After visible symptoms, the person generally has 10 to 30 years to live.
How does this new disease work?
Huntington’s disease is caused by a single mutation in DNA (gene HTT) that eventually produces toxic proteins (huntingtin protein). These toxic proteins damage brain cells.
In gene therapy, doctors directly infuse a high dose of AMT-130 into the brain.
The neurons take up the custom-made DNA permanently. This custom gene contains information and instructions to prevent the cells from making the mutant huntingtin protein.
The phase ½ clinical trial included 29 patients who volunteered to be treated with AMT-130, among whom 17 received a high dose while 12 received a low dose.
After a follow-up for 3 years, the high-dose patients showed 75per cent less disease progression than those who did not receive any AMT-130 treatment.
In a span of roughly a decade, AMT-130 has shown impressive results, and now the company is further conducting clinical trials in the US and Europe. Walid Abi-Saab, the chief medical officer at uniQure, has said that the company is eager to further discuss the data with the Food and Drug Administration (FDA) later this year and is aiming to submit a Biological License Application in the first quarter of 2026.
