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…
News
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.
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…
Sage Therapeutics is recruiting participants for a clinical trial to test the effects of its experimental therapy SAGE-718 on cognitive symptoms in people with Huntington’s disease. The Phase 2 study, called DIMENSION (NCT05107128), is seeking participants in select regions of the U.S. with additional sites in the…
Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
The Huntington’s Disease Society of America (HDSA) will contribute nearly $1.9 million to its Centers of Excellence program this year, growing it by one site plus two regional partner sites. These additions bring to 55 the number of grant-funded Centers of Excellence located across the U.S. and to 10…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
Spending more time on leisure activities — which contributes to a person’s cognitive reserve, or the ability to improvise — is associated with lesser cognitive and functional decline in people with early manifest Huntington’s disease, a study shows. In addition, a greater number of CAG repeats within the HTT gene…
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