This date will probably go into history along with the discovery of the Huntington gene in 1993. Today IONIS Pharmaceuticals announced the results from the first Huntingtin lowering trial in humans. The result exceeds all expectations. “I almost cried when I got the results,” Astri Arnesen the President of EHA, states.

Best Christimas Gift ever for the Huntington community! 

The Ionis trial is the first trial in humans with a drug that lower the expression of huntingtin in the brain cells. The first participant started the treatment more than two years ago. Ionis reports that the results exceeds all expectations.

The compound has so far proven the ability to lower the expression of mutant huntingtin considerably. “This gives us reason to believe that the root cause of HD can be targeted and influenced,” Astri Arnesen says. The treatment might slow the progress of Huntington’s and improve symptoms.

“I almost cried when Kristina Bowyer, the Executive Director, Patient Advocacy in Ionis, informed me about the amazing results,” Astri continues.

What is huntingtin lowering?

‘Switching off’ the cause of Huntington’s disease was the first thought that appeared when the HD gene was discovered in 1993. Huntingtin lowering drugs – previously called ‘gene silencing’ drugs – reduce the activity of the HD gene.

The drug tells the cells to delete the ‘message’ from the ‘sick’ gene causing the disease. In other words: it ‘shoots the messenger’.

The first major progress in achieving this came around a decade ago, when several mouse studies reported success in reducing the activity of the gene. In each case, lowering huntingtin improved symptoms of the disease in the HD mice.

And now the trial has been carried out in humans – with positive results.

The date 11th of December will therefore probably go into history along with the discovery of the HD gene in 93.  It’s a milestone and big breakthrough.  

What is the next step?

“I am so happy and excited! There is still a huge job to be done and there may be setbacks, but today I just want to celebrate and be happy.  We needed this. Our hope got a huge boost today,” Astri states.

The pharma company Roche will now take over the trial and development. The planning of the 3rd phase of the trial have already started.

EHA will be represented in a big and historical meeting in Basel the 13th of Dec. “And the best part of it all – this is only the beginning. There are several other very exciting Huntingtin Lowering trials that’s being done right now – or planned to start soon” 

“I hope all Huntingtonians will celebrate Christmas with the reassurance that we are moving closer to our goal. So please share the news with everybody. We want all HD affected to know about this and take part in the celebration,” Astri Arnesen finalises before packing the suitcase for Basel where she will meet Roche. 

For more information go to HDSA’s statement, IONIS’s statement or HDBuzz

Written by Maiken Arnesen and Astri Arnesen