News

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…

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…

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…

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

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…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

Mutations in the HTT gene, which cause Huntington’s disease, lead to abnormalities in development as early as two weeks after conception, a new study indicates. The study, “Huntingtin CAG expansion impairs germ layer patterning in synthetic human 2D gastruloids through polarity defects,” was published in Development.