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,…
News
Friedriech’s ataxia (FA) affects growth and weight in both adult and children, with the degree of differences from the general public in these key measures of health associated with disease severity, a study based on data from a large patient group reported. While children showed a markedly higher prevalence…
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…
The U.S. Department of Defense (DoD) is offering grant awards to researchers working to improve care for Friedreich’s ataxia. The DoD’s Congressionally Directed Medical Research Programs (CDMRP) is a funding organization whose goal is to further the development of new approaches to address specific areas of biomedical research as…
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…
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