News

High uptake of iron and copper by cells, caused by an insufficiency of frataxin — the protein lacking in Friedreich’s ataxia (FA) — leads to a decrease in the levels of these trace metals in the blood, a study shows. The researchers say this finding may have application…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

Treatment with methylprednisolone, an anti-inflammatory medication, had no evident benefit in children and adults with Friedreich’s ataxia (FA) enrolled in a pilot clinical trial conducted at the Children’s Hospital of Philadelphia (CHOP). Oral therapy with methylprednisolone failed to improve patients’ overall mobility and neurological function, although three children…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Dimethyl fumarate, an approved therapy for multiple sclerosis (MS), may help people with Friedreich’s ataxia by increasing the amount of frataxin protein that is deficient in these patients, an international research team has found. This suggests that the treatment may help overcome the metabolic impairment characteristic of Friedreich’s ataxia and…

A patient with Friedreich’s ataxia has been dosed with Minoryx Therapeutics’ investigational therapy leriglitazone in the ongoing Phase 2 FRAMES trial, the company announced. This first patient was enrolled at the Hospital La Paz in Madrid, and was administered the new therapy at the end of April…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

The thickness of the layer of nerve cells forming the back of the eye, or retina, may be used as a biomarker of Friedreich’s ataxia (FA) in future clinical trials, a study suggests. The study, “Peripapillary retinal nerve fibre layer thickness in Friedreich’s ataxia: a biomarker for trials?”…

A naturally occurring variant of ISCU2 protein can have the same molecular role as frataxin, an experimental study has found. This discovery may pave the way for the development of new strategies to bypass the effects of frataxin deficiency, which is known to cause …