News

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

Activating the JAK2-STAT3 pathway in astrocyte cells reduced multiple hallmark features of Huntington’s disease  — including the toxic clumping of the huntingtin protein in nerve cells — from the brains of a mouse model, a study reported. “Our results open new therapeutic avenues to further enhance the natural partnership…

The U.S. Food and Drug Administration (FDA) has designated valbenazine an orphan drug as a potential treatment to control the involuntary, jerky movements known as chorea in people with Huntington’s disease. Orphan drug status is given to therapies with the potential to improve medical care for rare disease. It…

Clumps of protein resulting from HTT mutations, the underlying cause of Huntington’s disease, form distinct structures in different parts of the cell, according to detailed imaging analysis. The findings suggest these clumps form by different mechanisms and may require different therapeutic strategies to block their formation and toxicity that…

Some 41,000 U.S. residents are thought to live with Huntington’s disease (HD), a rare progressive disorder that breaks down brain nerve cells. During May, and as part of Huntington’s Disease Awareness Month, the Huntington’s Disease Society of America (HDSA) is launching a robust social media initiative aimed at…

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…

The experimental therapy pepinemab can aid cognition in people with early Huntington’s disease who showed signs of cognitive impairment when they started treatment, new analyses from the Phase 2 SIGNAL clinical trial indicate. Findings were presented at the virtual American Academy of Neurology 2022 Annual Meeting in the poster, “…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

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…

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…