Stronger Together

Stronger Together was the theme for this year’s European Huntington’s Disease Association conference held in Sofia, which I was fortunate to attend in September.

Over the course of the three days I met the most dedicated, bravest, happiest, people from 28 countries across Europe and the world. People had travelled thousands of miles eager to hear about the latest research, the approaches that are being used elsewhere, to meet and make new friends and to stand together to fight this debilitating condition that knows no social, race, or age barrier.

Snapshot of Bulgaria

Bulgaria – as the host country – shared their progress since 2014 despite a number of local challenges. Typically, a lack of public and professional awareness has delayed diagnosis, or worse still, resulted in wrong diagnosis. Also, families living in remote hot spots, in isolation, with fear of stigma are faced with a distinct lack of good practice. There is progress, but obstacles such as no psychiatric input, no palliative care, no specialist care and a chronic lack of health care outside the capital city mean there is still a long way to go.

HD research and the future

For me, the most inspiring session was lead by Sarah Tabrizi, Professor of Clinical Neurology, from London, who ‘stole the show’.  Her presence, enthusiasm and passion were screaming for all to hear. She has been working in HD research for 21 years and her confidence in finding a treatment for HD was the hope we all needed to hear. She was adamant that HD will be treated in the same way as diseases like cancer and HIV are treated now and that is will not be the terminal disease we now see. She enthused that current treatment undergoing clinical trials give very real hope for the future generations living with HD.

Gene Lowering

The real hope is in what some call ‘gene silencing’ but Sarah referred to as ‘gene lowering’ therapies. The key being early treatment, that is to treat before it starts. The delivery method of choice currently is to inject directly into the spinal fluid, ventricles or brain tissue. This treatment is not reversible so is higher risk. This approach has now reached the second phase of human trials and shows to be very hopeful at stopping the disease before the symptoms cause disability for the person.

IONIC Trial

This exciting development of a single strand of chemically altered DNA which reduces the HTT protein level is the first clinical therapy supporting the attack of mutant protein. The drug is injected into spinal fluid but the target is the brain. Forty six patients with early HD from Canada and Europe are currently taking part in human trials.  There is an ‘open label’ extension for participants which means it is progressing well in terms of safety.

Gene editing – is also raising real hope.  A scientist discovered by accident that bacteria could destroy DNA. For a person with increased repeats related to HD this means finding the mistake, deleting the mistake and correcting the number or repeats. This is still in the very early stages.

On reflection…

The conference was overwhelmingly a positive experience for me. The unique opportunity to be emerged for three days amongst Europe’s eminent ‘leading lights’ on HD and HD families from across the globe was both exhilarating and exhausting!  The combined passion, enthusiasm and dedication of the speakers and the delegates was evidence if it was ever needed that ‘Stronger Together’ is the only way forward.

Without doubt I would encourage others to attend this annual conference – intellectually and socially there is so much to be gained from meeting like-minded people.  I came home genuinely optimistic, energised and more hopeful about the future of HD. 

Annette Brown
Senior HD Specialist
SHA Lothian