With Cath Stanley, chief executive of the Huntington’s Disease Association
Huntington’s disease is a rare neurodegenerative disorder, with around two in every 100,000 people living with the condition across the globe, including around 7,000 in the UK. Manifesting in both mental and physical symptoms, there is currently no cure for Huntington’s disease.
While medications and therapies can help manage symptoms such as psychiatric problems and involuntary movements, life expectancy following diagnosis is around 10 to 15 years.
However, in recent years, research into the condition has accelerated, offering new hope for those affected by this challenging neurodegenerative disorder. While it has long been known that Huntington’s is hereditary, it wasn’t until the early 1990’s that the Huntingtin gene (HTT) and how its mutation contributes to the development of the condition was discovered.
Since then, scientists have been working to uncover the mechanisms of the condition, accelerating new avenues of research into biomarkers, stem cells and genetics, providing a spring board for new treatments.
Notable advancements in recent years include the discovery that the huntingtin protein, produced by the HTT gene, helps create molecules that are crucial for repairing damage to DNA, affecting the brain’s ability to heal.
Another gene has been implicated as a potential therapeutic target in Huntington’s.
Researchers have found that the CHCHD2 gene is affected by the mutations in the HTT gene, which contributes to the normal function of mitochondria in the body.
Scientists have also been successful in slowing the progression of Huntington’s in worms and flies, offering hope for the future. From advancements in
gene therapy to the exploration of new care pathways, the UK’s Huntington’s Disease Association (HDA) is today at the forefront of supporting patients, families, and the scientific community.
NR Times spoke to HDA chief executive, Cath Stanley, to explore the latest developments in Huntington’s disease research, insights from the recent European Huntington Disease Network (EHDN) conference, and the HDA’s ongoing efforts to improve care and understanding of the disease. We also discuss the crucial work being done through projects like Enroll-HD and the organisation’s plans for the future.
Can you tell us about any of the latest and most exciting developments in Huntington’s disease research, such as treatments, technologies, or new care pathways for example?
There is a massive amount of research happening in Huntington’s disease at the moment. The research covers a wealth of different approaches such as gene therapy, huntingtin lowering, small molecules, and looking at biomarkers that indicate the start of the disease.
We heard about some of the developments at the recent EHDN Conference in Strasbourg in September 2024.
The European Huntington Disease Network has recently published some guidelines about the care of Huntington’s disease. The Huntington’s Disease Association is looking to write and publish some good practice care guidelines in the next year.
Is the Huntington’s Disease Association currently involved in any of its own research projects? And can you provide a status update on Enroll-HD, the world’s largest observational study for Huntington’s disease families?
The Huntington’s Disease Association doesn’t carry out clinical research although we are currently looking at unmet mental health needs in Huntington’s disease.
Enroll-HD is a natural history study focusing on how the disease presents in individuals. It has recently launched an updated version focusing on attracting younger people at risk into the study as this will be the focus of any upcoming clinical trials in the future.
Have you noticed any changing trends in incidence levels or demographics?
No real changes but the major change is the willingness of the younger generations to share their stories and experiences, and their desire to talk about Huntington’s disease.
What challenges are researchers and patients currently facing in Huntington’s disease research and care?
The major challenge facing care is the lack of understanding by professionals of Huntington’s disease and its symptoms.
One of the challenges facing research is the knowledge that brain changes begin before symptoms appear so ideally this is when you would want to treat people. However, there are clearly some ethical and moral dilemmas about carrying out research on apparently healthy individuals.
What are the Huntington’s Disease Association’s plans for the year ahead?
We are going to launch a report on the unmet mental health needs of people with Huntington’s disease. We hope to launch this in Parliament. We work with the Huntington’s community and are asking them what they want us to campaign for.
We are surveying the community to determine our campaign priorities and will devise a strategy to reflect that. We are strengthening and developing our volunteer network. We will continue to work for people with Huntington’s disease to have access to care coordinators.
We continue to give a voice to people with Huntington’s disease to ensure more people know about the disease. •
