The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…
When I stepped away from my role as board chair of the Huntington’s Disease Youth Organization in 2020, I knew it wouldn’t be long before I found my next Huntington’s passion project. The passion in me is deeply rooted and originally created through my mom, who passed from Huntington’s…
Treatment with oral valbenazine, a dopamine-modulating medicine, significantly eased the jerky, involuntary movements of chorea after as little as two weeks for Huntington’s disease patients in a completed Phase 3 clinical trial. More study participants given valbenazine also reported an improvement in their overall health status than did those randomized to…
I recently shared with my wife, Jill, a saying I read in a store: “A smile and some kind words can really change someone’s day.” Jill smiled and said she knew the power of that saying because she had witnessed it years ago. The story she told me unfolded during…
A Phase 2 trial evaluating PTC518, an investigational treatment for Huntington’s disease, has started in the U.S., PTC Therapeutics announced. The trial, called PIVOT-HD, will run across clinical sites worldwide and is divided into two parts. First, participants will be randomly assigned to a placebo or PTC518…
My wife, Jill, works from home doing freelance jobs. Because she works remotely, she can watch television during the day from the comfort of our living room. The recent confirmation hearings in the U.S. Senate for Supreme Court nominee Judge Ketanji Brown Jackson kept Jill transfixed as she pondered…
Last week, I was listening to GC Chat, a genetic counseling podcast, and it got me thinking about the Huntington’s disease (HD) genetic testing process. In Season 3, Episode 3, “A Heavy Burden,” hosts and genetic counselors Ashley Crook and Ellenore Martin discuss a case in which a…
The perception of time is impaired in people with symptomatic Huntington’s disease in its early stages — but not in patients without symptoms, a study revealed. These findings suggest that time perception impairment may be used as a clinical tool for assessing those with the neurodegenerative disorder, the scientists…
What happens when you mix the following events together: the war in Ukraine, climate change, rising gas prices, supply chain issues, and a pandemic? It’s a recipe for a rising tide of anxiety. Scroll through social media or peruse any of the major news outlets, and the steady drumbeat…
The first two dosing groups in a Phase 1/2 trial of AMT-130, uniQure’s investigational gene therapy for Huntington’s disease, are now fully enrolled. The trial (NCT04120493), being conducted across 12 U.S. locations, is assessing the safety and tolerability of a single AMT-130 infusion into the brains of…
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