The Cure to an "Incurable Disease"  Huntingdon's Disease

The Cure to an ‘Incurable Disease’

Very recently, a devastating disease that killed off brain cells, affecting thinking, movement and behaviour, was treated for the very first time. Huntingdon’s disease (HD) is a genetic disease, caused by an error in the Huntingtin gene. It is described as a ‘horrific’ disease that attacks the brain in a combination of Dementia, Parkinson’s disease and Motor Neurone Disease. With an extensive list of debilitating symptoms including trouble walking, akinesia and dystonia (movement disorders), trouble eating, insomnia, personality disorders and more, the previous lack of treatment to the disease caused the suffering of 8,000 UK citizens with HD. This suffering was enhanced by the scary reality that children have a 50% chance of inheriting the all-important faulty Huntingtin gene if one of their parents have the disease.

Whilst it is unsurprising that a great many scientists and researchers have been working tirelessly to produce some kind of treatment or cure for the disorder since its discovery in 1993, the fact that it wasn’t until late September 2025 that the search became fruitful displays the extreme complexity of the disorder. Scientists at the UCL Huntingdon’s Disease Research Centre aimed to reduce levels of the toxic protein that causes the disease permanently, using only one dose of the treatment. The researchers; Prof. Sarah Tabrizi and Prof. Ed Wild, alongside their team, created AMT-130, a gene therapy that slowed HD progression by around 75% in trials. This meant that the progression of the disease that previously occurred over a year without treatment now occurs over four. This greatly increases the 15 year life expectancy for patients from the start of their symptoms, marking a monumental discovery in research into genetic diseases. 

The treatment itself is a genetic medicine that combines gene therapy and gene silencing technology. It is administered through 12-18 hours of delicate brain surgery, however this one dose is (at the moment) the extent of the treatment, and lasts a lifetime. The disease itself is caused, as mentioned, by the faulty Huntingtin gene. This error causes a toxic protein to be produced, which attacks cells and causes severe loss of brain matter over time, leading to all kinds of issues. To counteract the toxic protein levels in the brain, a safe virus is genetically modified to contain a specific DNA sequence. This virus is then inserted into two specific regions in the brain, where the DNA sequence is delivered to the brain cells by the virus, where it becomes active, turning the brain cells into a ‘factory’ for the therapy that saves them. With the help of the inserted DNA sequence, the cells produce microRNA (a piece of genetic material) which intercepts the messengerRNA, preventing the building of the toxic protein. 

This genius treatment has had overwhelmingly positive results. In the first ever clinical trial, continuous and significant slowing of the disease was observed, over multiple years. All 29 patients remain anonymous, and a full report is still awaiting ratification. However, one patient who was previously medically retired, has returned to work, and others are still walking, despite being expected to need wheelchairs full time. The only side effects discovered were a series of headaches experienced by a portion of the patients, but these either resolved themselves or were eradicated using minor steroid treatment. Despite this, there are some major drawbacks to the treatment, including the lengthy surgery, which could pose a risk to patients far into the regression caused by the disease, and the obvious extreme cost, making it inaccessible to many suffering from HD living in countries without easily accessible or free healthcare.

On the whole, AMT-130 is an incredible discovery, which will revolutionise not only research into neurological conditions and genetic diseases, but medicine as a whole. The research provides an insight into the intricate workings of gene therapy, and how it can be successfully employed to produce overwhelming change. Undoubtedly, these results could kickstart new treatment plans for other neurological disorders similar to HD, such as MD and Parkinson’s. On the whole, the treatment will aid so many growing up in fear of a looming degenerative condition, and will allow people so much longer with their loved ones. Regardless of cost and intricacy, the surgery will give hope to so many whose lives have been altered by Huntingdon’s disease. 

Sources/References

1. NINDS – Huntington’s Disease Overview
National Institute of Neurological Disorders and Stroke (NINDS), 2020. Huntington’s Disease. [online] National Institutes of Health. Available at: https://www.ninds.nih.gov/health-information/disorders/huntingtons-disease [Accessed 3 Oct. 2025].

2. Cleveland Clinic – Huntington’s Disease Information
Cleveland Clinic, 2023. Huntington’s Disease. [online] Available at: https://my.clevelandclinic.org/health/diseases/14369-huntingtons-disease [Accessed 10 Oct. 2025].

3. BBC News – Gene Therapy in Huntington’s Disease
BBC News, 2025. Huntington’s disease: Gene therapy slows progression in trial. [online] Available at: https://www.bbc.com/news/articles/cevz13xkxpro [Accessed 3 Oct. 2025].

4. University College London (UCL) – Gene Therapy Trial Results
University College London, 2025. Gene therapy appears to slow Huntington’s disease progression. [online] Available at: https://www.ucl.ac.uk/news/2025/sep/gene-therapy-appears-slow-huntingtons-disease-progression [Accessed 3 Oct. 2025].