What is Huntington’s disease? Find out from Mai-Lise Nguyen, Senior Group Director, Patient Partnership – Rare Diseases
Published 06 November 2019
It’s 1993. Bill Clinton is president of the United States, Jurassic Park is topping the box office and Whitney Houston’s hit single 'I Will Always Love You' is dominating the radio waves.
It was also a memorable year for Huntington’s disease research.
Over 120 years after the condition was first described in medical literature, researchers finally found the genetic cause of this rare neurological condition – a mutation in the huntingtin gene.1
This ‘mistake’ in the gene leads to the creation of a toxic form of the huntingtin protein that in turn kills nerve cells and causes a range of symptoms.2 These symptoms fall into three categories – cognitive, behavioural and movement – and include impaired judgement, personality changes, depression, balance issues and difficulty speaking and swallowing.3,4
Symptoms usually strike between 30 and 50 years old – when patients are in the prime of their life – and the disease is often fatal within just 20 years.4 Even more tragically, the genetic nature of Huntington’s means it can be passed-down from parents to their children – and so the devastating impact of this disease ripples across generations.4
Despite the breakthrough discovery of the genetics behind Huntington’s more than 25 years ago, there is still no cure, and approved treatments only manage symptoms.5
So, why is it that this discovery has yet to bear fruit for patients?
“We simply haven’t had the technology,” explains Madhurima Benekareddy, Research Project Leader, Roche Pharma Research and Early Development (pRED). “But that may all be about to change. At Roche we are working on a range of therapies that use the latest technologies to go to the root cause of the condition.”
Paving the way
The overall aim is to reduce the production of the mutant huntingtin protein by targeting the huntingtin gene – an area of research that Roche and partner company, Ionis, have led the field in, paving the way with one of the largest phase III trials ever conducted in Huntington’s disease.
But this, and other phase III trials already underway, won’t be the end of the journey – there is still work to do if we want to really improve outcomes for these patients. Roche is interested in exploring a range of novel approaches to reduce mutant huntingtin protein production, such as small molecules and possibly even gene editing. By considering lots of different approaches, the ultimate aim is to give patients and physicians choice – to choose treatments that suit each individual, at different stages of their disease.
"Our hope is to give patients access to multiple potentially life-changing therapies."
When looking into potential new treatments for Huntington’s, we stick to our ‘Follow the Science’ motto. We believe that by doing this, we will be able to turn scientific discoveries into medicines that can transform the lives of patients.
Madhurima Benekareddy, Research Project Leader explains how we are targeting Huntington’s disease
Putting patients at the centre of strategy
Patients are not only the potential benefactors of these efforts; they have been integral to shaping Roche’s strategy and approach in Huntington’s. Fundamentally, no one knows more about living with a disease than patients and their families, and Roche’s Huntington’s programme isn’t just a product of scientific research and technological advances – it’s the culmination of multiple partnerships with patients, external experts, and other companies such as Ionis.
“We’ve been working with the community on how to measure what matters most to the patients, and implementing that into our clinical trial design,” says Mai-Lise Nguyen, Senior Group Director, Patient Partnership – Rare Diseases at Roche. “We have patient representatives and community representatives as part of our strategic discussions, so that we can keep the patient and the community needs at the centre of everything that we’re doing.”
It’s this community that continues to inspire the hunt for potential treatments. Although it’s still early days, with results from the ongoing phase III trial not expected until 2022, Madhurima, Mai-Lise and their colleagues are optimistic about the impact the latest research may have on patients.
"It’s an exciting time in Huntington’s research – I for one am eager to see what the future holds."
- MacDonald, M et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. The Huntington’s Disease Collaborative Research Group. Cure 1993; 72(6): 971-983.
- National Institute of Health (NIH). Huntington disease. [Internet; cited September 2019]. Available from: https://ghr.nlm.nih.gov/condition/huntington-disease#genes
- Huntington’s Disease Association. Symptoms of Huntington’s disease. [Internet; cited September 2019]. Available from: https://www.hda.org.uk/huntingtons-disease/what-is-huntingtons-disease/symptoms-of-huntingtons-disease.
- National Health Service. Huntington’s disease. [Internet; cited September 2019]. Available from: https://www.nhs.uk/conditions/huntingtons-disease/.
- National Health Service. Treatment and support; Huntington’s disease. [Internet; cited September 2019]. Available from: https://www.nhs.uk/conditions/huntingtons-disease/treatment/.