News

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

AFFiRiS’ C6-17, a candidate monoclonal antibody for the treatment of Huntington’s disease, is able to target and halt the spread of mutant huntingtin protein — the underlying cause of the neurodegenerative disorder — across cells, new preclinical data show. The study, “Inhibiting cellular uptake of mutant huntingtin using…

A Phase 1/2 clinical trial evaluating AMT-130 as a potential gene therapy for Huntington’s disease has “treated” its first two patients, uniQure announced. One person was given AMT-130 and the other a sham surgery as part of a control group. Both will now be followed for three months, after which a Data…

At least three major pharmaceutical companies are looking into potential gene therapies for Huntington’s disease — a rare inherited condition without a cure or a treatment to stop its progression. While several approved therapies exist to control the disorder’s physical and psychiatric effects, non-drug alternatives to alleviate the worst…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

Austedo (deutetrabenazine) can be safely taken at higher than the maximum dose now approved to control involuntary movement in people with Huntington’s disease, an analysis of clinical trial data reported. These findings, “Evaluation of the Safety of Deutetrabenazine at Higher Doses to Treat Chorea in…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

A novel class of proteins, dubbed heat-resistant obscure (Hero) proteins, can protect other proteins from a variety of cellular stresses, and also can prevent the formation of protein aggregates typical of Huntington’s disease and amyotrophic lateral sclerosis (ALS). The new protein class was described in the study “…

Vaccinex’s Phase 2 SIGNAL study, evaluating the investigational antibody pepinemab (VX15/2503) in Huntington’s disease patients with late prodromal and early disease, is ongoing and has tested pepinemab in all 265 patients enrolled in cohort B, the company announced. As of March 31, only 37 patients in this group…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…