News

Altered regulation of a protein called actin may contribute to neurodegeneration in Friedreich’s ataxia, according to a study in a mouse model of the disease. The work highlighted a potential association between the underlying cause of FA (lack of the frataxin protein) and both over-activation of…

Eye health correlates with neurological disability in people with Friedreich’s ataxia (FA), a clinical study reports. These findings support the potential of specific measures of vision and eye health to evaluate disease progression in this patient population, the scientists said. The study “Ocular Involvement in Friedreich Ataxia Patients and…

The COVID-19 pandemic has not affected the preclinical program of XCUR-FXN, an experimental treatment for Friedreich’s ataxia (FA), Illinois-based Exicure said. Since biotechnology companies were designated essential businesses by the state’s governor J.B. Pritzker, Exicure will continue its research programs despite the the “stay-at-home” order in…

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…

To minimize risk during the COVID-19 pandemic, Reata Pharmaceuticals is implementing at-home visits to deliver omaveloxolone to Friedreich’s ataxia (FA) patients and to assess the treatment’s safety in an extension study of the MOXIe Phase 2 clinical trial. “The COVID-19 pandemic presents an unprecedented threat to public…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…

Design Therapeutics has launched with $45 million in funding to advance its lead candidate for the treatment of Friedreich’s ataxia into clinical development, and support programs for other nucleotide repeat disorders such as fragile X syndrome, and myotonic dystrophy. These genetic diseases are caused by excessive repeats…

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…

Neurofilament light chain (NfL) and phosphorylated neurofilament heavy chain (pNfH) — two key components of axons (nerve cell extensions responsible for transmitting nerve signals) — show promise as biomarkers of neurodegeneration in Friedrich’s ataxia (FA), a study reports. The study, “NfL…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…