EHDN just held its plenary meeting in Vienna; over 1,000 delegates attended. The event confirmed the pace of HD research is accelerating and that was underscored by pharmaceutical company Roche announcing their pivotal ‘huntingtin lowering therapy’ trial of RG6042 (formerly IONIS Httrx). They currently anticipate the trial will recruit up t0 660 people worldwide, making it the largest ever clinical trial for HD. You can find out more about this trial at https://en.hdbuzz.net/263.

It’s incredibly exciting to have reached this stage of a clinical trial and so far this drug has performed well. (see https://hdscotland.org/headline/research/ionis-release-data-from-phase-one-gene-silencing-trial/) , but this was far from the only exciting presentation and here are my five top announcements.

One

Professor Lesley Jones confirmed the identification of a number of modifier genes which have a significant impact on the age of onset of symptoms of Huntington’s disease and provide potential new targets for developing treatments.

Two

Dr Harm Kampinga returned to the subject of ‘aggregates’ (sticky balls of the Huntingtin protein) in Huntington’s disease and his work has identified the molecular pathway that leads to this process. He thinks ‘chaperone proteins’ which are responsible for ensuring other proteins (including Huntingtin) fold correctly, play a crucial role and may provide a target for future HD treatment. His thinking is that these proteins might help prevent the formation of aggregates, the formation of which appear to mark a catastrophic turning point for cells, therefore preventing them might prove another treatment for HD.

Three

Professor Monica Bousse presented compelling evidence that exercise has a significant impact on delaying the onset of symptoms of HD, reinforcing that eating well, exercising and managing stress are a worthwhile investment.

Four

Bonnie Hennig-Trestman talked about the importance of talking to young people at an early stage and gradually introducing age appropriate information as and when a child asks for it.

Five

It was great to hear the personal accounts of people with HD, carers and families which had a prominent position in the conference. EHDN is doing well in making sure families living with HD are central to the work of finding tratments.