Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
Genome editing is a much-discussed frontier in medical science at the moment, with ‘DNA surgery’ having the potential to treat or cure genetic diseases like Huntington’s. Here we look at what this technology can currently do and discuss the challenges that still lie in the way. We’ll also discuss how a team of Swiss scientists have recently developed a way to switch off the genome-editing machinery after it’s done its job.
Ionis Pharmaceuticals launched the first ever trial of a huntingtin-lowering drug – sometimes called a 'gene silencing drug' – in late 2015. In a significant update, the company has announced two important milestones: the trial is now fully recruited, and an 'open-label extension' will be activated for the volunteers in the current trial. While nothing is guaranteed, this bodes well for the future of this important program.
Significant news for the Huntington's disease community this week, as the USA's drug regulator, the FDA, has formally approved Austedo, also known as deutetrabenazine, for prescribing in HD. This modified form of tetrabenazine helps control chorea, the jerky movements often found in HD patients, but is taken twice rather than three times a day.
Pfizer has announced that the first-pass analysis of its 'Amaryllis' trial, testing a PDE-10 inhibitor drug, shows the drug did not meet its target of improving Huntington's disease symptoms. As a result, the open-label extension study will be stopped. This is not the news we'd been hoping for, but we've learned a lot about HD along the way.
A recent press release from Teva Pharmaceuticals has the HD community excited, claiming "Pridopidine Demonstrates Slowing of Progression of Huntington Disease in PRIDE-HD Study". What's pridopidine, and what can we really say about HD progression in patients treated with it?
Everyone with Huntington's disease has inherited the same type of mutation from their mother or father, an extra-long repetitive stretch of the sequence C-A-G in their HD gene. But the length of the mutation varies between individuals, and longer repeats are associated with earlier onset of symptoms. A huge new international study reveals that slightly longer-than-normal CAG stretches are much more common than we thought. Surprisingly, this turns out to be good news.
Nearly a thousand HD family members converged on Baltimore, Maryland for the 2016 Huntington’s Disease Society of America’s Annual Convention. We normally don’t write reports from patient and family conferences, but there was something special about the atmosphere of this year’s Convention that compelled us to pen a brief update.
A recent article in the UK newspaper the Daily Telegraph has HD families very excited. The title, "First drug to reverse Huntington’s disease begins human trials", certainly sounds exciting! But what's really going on? HDBuzz is here to help us untangle hope from hype in the huntingtin lowering world.
The third and final day of the 2016 Huntington's Disease Therapeutics Conference brings updates on cell replacement therapies including stem cells; and new ways to assess and model the progression of HD to help understand it and run crucial clinical trials.