… when it all goes quiet.

On December 11th 2017, I, like everyone who lives with or cares about Huntington’s Disease, woke up to the headline news, that American company IONIS had completed phase one clinical trials that demonstrated their experimental drug IONIS-Httrx (now called the equally inspiring name of Roche 6042) had lowered the levels of the faulty protein that causes HD, for the first time. The wave of joy, excitement and anticipation from families across the world was palpable.

And then came the inevitable silence; almost as though the entire HD community is holding its breath for the next headline; the one that says ‘HD Breakthrough drug successfully slows onset and improves symptoms’.

None of us know for sure if that headline will ever be published, but there is now hope that day will come.

While the ensuing quiet may feel anticlimactic, it is worth taking a peek behind the curtain to see just how much is still going on; indeed I don’t think the HD community has ever been busier or more engaged than it is right now.

Roche are working incredibly hard to set up one of the largest phase three trials of a potential HD treatment there has ever been. They are likely to recruit as many as three hundred people with HD worldwide. It is an immense task and requires careful planning, coordination, and communication as they figure out where best to invest the vast resources required to run a successful clinical trial. SHA is hard at work trying to influence as many people through as many avenues as possible, with the goal of having at least one trial site in Scotland. Scotland has an excellent, proven infrastructure for supporting clinical trials and has strong relationships with the pharmaceutical industry. It also has a world class health service and a well organised HD community who are highly motivated. These are all issues we have been raising with Roche.

Let’s not forget too, Roche 6042 is not the only show in town and Wave Life Sciences are also beginning their phase one gene silencing trial. I hope to report more detail about this by the summer when WAVE release further information.

At SHA, setting up and promoting the HeaDline service is an important step towards making sure that Scottish families have the information they need about what is happening with these important trials and how they will impact the Scottish HD community. We’ve also been working hard to brief our HD Specialists, Youth Team and other staff, so they have the correct information. I’m also keen to widen the discussion to other key organisations we work with, like genetics, to make sure that we are all on the same page and giving the same information. Meanwhile our Board of Trustees have been thinking hard about what else is needed to maximise the opportunities clinical trials might bring and have written a five year strategy.

Huntingtin Lowering Therapies (gene silencing) are undoubtedly the most promising avenue for treatment, but many research teams continue to work on other ways that HD might be treated and that’s important because we don’t want to put all our eggs in one (or even two) baskets.

The quiet that seems to have followed December’s big announcement isn’t quiet at all, it is instead the thrum of hard work and determination to deliver a successful treatment for HD and to ensure that the associated support people living with it is also in place.

Author: John Eden

John Eden


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