Marisa Wexler, MS, senior science writer —

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

Treatment with tominersen failed to show evidence of clinical benefit in adults with Huntington’s disease during the Phase 3 clinical trial GENERATION HD1. Roche, the company developing tominersen, decided to pause dosing in the clinical trial about a month ago, after a pre-planned review of trial data…

The U.S. Food and Drug Administration (FDA) has granted Voyager Therapeutics permission to start a clinical trial testing VY-HTT01, its investigational gene therapy for Huntington’s disease. Voyager is planning to launch the Phase 1/2 clinical trial, called VYTAL, later this year. VYTAL will be a dose-escalation study, meaning that…

A chaperone protein called DnaJB8 has an internal molecular “switch” that likely regulates how cells dispose of protein aggregates, like those that cause Huntington’s disease. These findings were detailed in the study “Regulatory inter-domain interactions influence Hsp70 recruitment to the DnaJB8 chaperone,” published in Nature Communications. Huntington’s is…

A new international consortium, Stem Cells for Huntington’s Disease (SC4HD), has been formed to help facilitate the development of stem cell-based therapies to treat the disorder. The consortium was presented in the Journal of Huntington’s Disease, in the paper, “Stem Cells for Huntington’s Disease (SC4HD): An International…

Note: This story was updated Jan. 14, 2021, to note that pridopidine is no longer called Huntexil.  Treatment with pridopidine can slow the decline in total functional capacity in people with Huntington’s disease, a new analysis of clinical trial data indicate. The findings were published in the Journal…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

The U.S. Food and Drug Administration (FDA) has given orphan drug designation to the oral therapy branaplam (LMI070) as a potential treatment for Huntington’s disease, the therapy’s developer, Novartis, announced. The designation is given to medications that have the potential to treat rare diseases — defined in…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Vaccinex’s investigational antibody pepinemab showed good tolerability in a Phase 2 clinical trial of people with late prodromal (before clinical diagnosis) and early Huntington’s disease (HD), top-line data show. The results also hint the treatment may improve cognition; however, those efficacy results did not reach statistical significance.