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Huntington’s in 2018: A Breakthrough Year

Clark Admin

December 3, 2018

At Clark Health, we are always looking for the next “big thing” in healthcare. With several neuroscience graduates in our team and our broad experience working on neurology products, it’s an area we like to keep an eye on. Like many other disease areas, breakthroughs in the world of neuroscience are incredibly rare, so when a Huntington’s disease treatment made new ground earlier this year1, it created waves of excitement and we’ve been watching this space ever since.

What is Huntington’s disease?

Huntington’s disease is an inherited disorder that is caused by a mutation of the Huntingtin gene. This leads to the production of a mutant Huntingtin protein (mHTT). Accumulation of mHTT is thought to be toxic to neurons and therefore responsible for the progressive brain damage observed in Huntington’s patients.

Patients with Huntington’s typically experience a wide range of symptoms, including involuntary jerking movements, difficulty speaking and swallowing, personality changes, breathing problems, and difficulty moving around, which collectively, can devastate their lives and relationships. There are approximately 8,000 people in the UK affected by Huntington’s disease2, but with symptoms typically presenting themselves in later life, it is estimated that this figure only represents a third of the total UK Huntington’s population3.

There are currently no disease-modifying treatments for Huntington’s. Instead, patients are limited to treatments that only help with some of the more common symptoms .Therefore, there is an urgent unmet need for a treatment that slows, or even prevents, the progression of the disease.

What happened in 2018?

This may have all changed this year when the results of an early phase study of a new orphan drug, specifically designed to treat Huntington’s, were announced as successful1. The drug in question (formerly IONIS-HTTRx, now RG6042), uses a new approach to Huntington’s therapy; by genetically interfering with the production of mHTT, the medication was not only effective in lowering the levels of this toxic protein, but it was also safe and well-tolerated, making it the first successful study of a disease-modifying therapy in Huntington’s patients.

Fortunately, the progress does not stop there. More recently, RG6042 was granted priority medication designation by the European Medicines Agency (EMA) going into the next stage of studies, details of which have now been announced4. If the effects of this medication can be shown to treat the symptoms of the disease, this new and innovative orphan drug could pave the way for novel treatments in Huntington’s. With a bit of luck (and a lot of hard work and funding) we could see the first truly effective therapy in the not too distant future. Watch this space!


  1. Sarah Tabrizi, et al. Effects of IONIS-HTTRx in Patients with Early Huntington’s Disease, Results of the First HTT-Lowering Drug Trial (CT.002). Neurology. April 2018; 90 (15). Available at: http://n.neurology.org/content/90/15_Supplement/CT.002
  2. Ben Harper. Huntington disease. Journal of the Royal Society of Medicine. 2005; 98(12):550. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1299343/
  3. https://www.alzheimersresearchuk.org/uk-dri-invests-1-5m-million-huntingtons-disease/
  4. https://www.roche.com/investors/updates/inv-update-2018-08-03.htm