News

Creatine chemical exchange saturation transfer or CrCEST, a metabolic imaging tool, may be a valuable technique for detecting mitochondrial function across muscles in people with Friedreich’s ataxia (FA), a new study found. To date, CrCEST has not been used to assess mitochondrial capacity in people with FA. “CrCEST MRI…

Exicure is drawing to a close its XCUR-FXN program for the treatment of Friedreich’s ataxia for an unknown period of time, the company announced. The decision comes after an internal investigation concluded that data from the program’s preclinical phase would not support steps into a clinical trial, planned…

Shandra Trantham, 24, was a naturally inquisitive child and loved science. So when she was diagnosed with the rare neuromuscular disease Friedreich’s ataxia (FA) around age 9, she set out to learn as much as she could. “When I had this diagnosis, and I read online that there was…

Jacob Thompson began to hear an incessant ticking noise emanating from the engine of his 2002 Jeep Grand Cherokee. He played music to drown it. In doing so, he ignored a looming problem that ultimately put his car out of commission. That’s the metaphor Thompson uses when he describes his…

The Friedreich’s Ataxia Research Alliance (FARA) has announced upcoming deadlines for its grants program — with awards of up to $250,000 on offer — for scientists seeking to advance research into the progressive disorder that primarily affects nerves and muscles. FARA’s research program supports basic, translational, and clinical…

A team of scientists at Koc University in Turkey has created three new cell models of Friedreich’s ataxia (FA) derived from patients with repeat expansions in their FXN gene. The models “will facilitate studies to understand molecular mechanisms related to FRDA [Friedreich’s ataxia] pathology [disease processes] as well as therapeutic…

The U.S. Food and Drug Administration (FDA) has granted its fast track designation to Reata Pharmaceuticals’ oral candidate omaveloxolone for Friedreich’s ataxia (FA). Fast track status is designed to accelerate the development of investigational therapies that address unmet medical needs in serious or life-threatening conditions. It makes Reata eligible…

People who have interruptions in a specific part of their GAA repeats in the FXN gene experience the onset of Friedreich’s Ataxia (FA) about nine years later than those without such breaks, a study found. These findings highlight the importance of GAA repeat interruptions on the course of FA,…

Design Therapeutics announced that it remains on track to launch the first clinical trial of its lead experimental candidate — gene-targeted chimera (GeneTAC) — for the treatment of Friedreich’s ataxia (FA) for the first half of 2022. The planned Phase 1 trial will test the therapy in patients,…

A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than for those without rare diseases. This study provides evidence of the potential effect rare diseases may have on public health…