News

#AAN2022 – Valbenazine Quickly Eases Chorea in KINECT-HD Trial

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…

Phase 2 Trial of Oral Therapy PTC518 Launched in US

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…

Increased Education Crucial to Improving Rare Disease Care, Survey Finds

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…

HTT Mutations Affect Embryo Development as Early as 2 Weeks

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.

#RAREis Representation Program Promotes Equity, Diversity

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…