News

Way of Identifying What Protects Frataxin May Help in Slowing FA

Levels of the protein frataxin, which are abnormally low in people with Friedreich’s ataxia (FA), are further reduced by excess iron and increased protein degradation, a study found. Screening approved compounds in a yeast model identified those that prevented this additional frataxin loss in cells isolated from a patient,…

FDA Grants Priority Review to Reata’s Omaveloxolone Oral Therapy

The U.S. Food and Drug Administration (FDA) has granted priority review to Reata Pharmaceuticals’ omaveloxolone, an investigational once-daily oral therapy for Friedreich’s ataxia. If approved, omaveloxolone would become the first therapy available for the treatment of the disease in the U.S. The decision comes following the company rounding…

Smoothened Agonist May Normalize Defects in Brain Cells With FA

Astrocytes, a type of support cell in the brain, showed metabolic defects and unusual pro-inflammatory activity that likely contributes to neuronal dysfunction in a cell model of Friedreich’s ataxia (FA), according to a new study. Results also indicate that treatment with a molecule called smoothened agonist (SAG) can normalize…

Organizations Rally to Help Ukrainian Rare Disease Patients

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…

Europe Awaits Proposed New Framework for Sharing Health Data

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…