News

A single injection of the protein CDNF — cerebral dopamine neurotrophic factor — into the brains of rats with induced Huntington’s disease protected affected nerve cells from degeneration and improved motor performance, a study reported. These findings support further development of CDNF as a treatment…

The first participant was dosed in a Phase 2a clinical trial testing Annexon’s investigational therapy ANX005 as a treatment for Huntington’s disease, the company announced. The open-label study ((NCT04514367) is currently enrolling patients at three sites in Washington state and Colorado; other sites across the U.S. are not yet…

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…

Patients with early-onset Huntington’s disease (HD) experience more muscle and eye movement abnormalities, and more rapid progression of motor symptoms, than those with late-onset disease, according to a recent study. According to researchers, the variation in clinical features and disease progression…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

A Phase 1 trial will evaluate PTC Therapeutic’s PTC518, its investigational therapy for Huntington’s disease, in healthy volunteers, the company announced. The trial’s first results are expected in the first half of 2021. “The initiation of the clinical trial to evaluate PTC518 for the Huntington’s disease program is…

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…

Levels of proteins derived from prodynorphin (PDYN) — ultimately used during cell-to-cell signaling in the brain — are decreased in the fluid surrounding the brains of people with Huntington’s disease (HD), a new small study suggests. These findings indicate that PDYN-derived proteins could be used as specific biological…

The first U.S. patients have been enrolled in PROOF-HD, a Phase 3 clinical trial investigating pridopidine as a treatment for Huntington’s disease, according to developers Prilenia Therapeutics. PROOF-HD (NCT04556656) will enroll up to 480 people with early-stage Huntington’s, and is currently recruiting at more than 60…

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…