News

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…

Reata Pharmaceuticals has completed a rolling submission of a new drug application (NDA) seeking approval in the U.S. for its investigational oral therapy omaveloxolone to treat Friedreich’s ataxia (FA). In a rolling submission, companies can submit individual sections of review applications to the U.S. Food and Drug…

Stealth BioTherapeutics’ lead candidate elamipretide has been granted orphan drug status by the U.S. Food and Drug Administration (FDA) for the treatment of Friedreich’s ataxia (FA). An orphan drug designation seeks to encourage therapies for rare diseases, through benefits such as seven years of market exclusivity upon approval…

Targeting the end regions of FXN mRNA – the intermediary molecule used to make frataxin – may allow cells to make more of this protein, whose absence causes Friedreich’s ataxia, a new study shows. “We demonstrated a novel approach to increase intracellular levels of FXN mRNA and protein based…

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…

A new DNA test has been developed to simultaneously screen for more than 50 genetic neuromuscular diseases, including Friedreich’s Ataxia (FA), helping to diagnose patients far more quickly than standard genetic testing techniques, according to a recent study. “This new test will completely revolutionize how we…

Reduced thickness of the peripapillary retinal nerve fiber layer (RNFL) in the eye’s retina is associated with worse disease severity in people with Friedreich’s ataxia (FA), an Irish study concluded. Follow-up measurements showed a thinning in this layer was linked to worsening disease severity, suggesting that regular eye assessments may…

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…

The U.S. Food and Drug Administration (FDA) has cleared Design Therapeutics to begin a Phase 1 clinical trial investigating its GeneTAC small molecule DT-216 for the treatment of Friedreich’s ataxia (FA). This clearance comes after the submission of an investigational new drug (IND) application based…

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…