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Topline results of Reata‘s MOXIe trial show that almost one year of treatment with the investigational oral therapy omaveloxolone (RTA 408) is well-tolerated and leads to significant benefits in neurological function in patients with Friedreich’s ataxia (FA), meeting the Phase 2 trial’s primary goal.

A Phase 2 trial testing leriglitazone as a potential oral treatment for Friedreich’s ataxia (FA) has recruited its target number of participants ahead of schedule. The multi-center, double-blind FRAMES study (NCT03917225) will assess leriglitazone in 39 participants, 12–60 years old, who were recruited in four and a…

Symptoms of depression significantly affect the quality of life of people with Friedreich’s ataxia (FA), a study has found.  The study, “Health-related quality of life and depressive symptoms in Friedreich ataxia,” was published in the journal…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…

Online forums have markedly altered how patients, caregivers and healthcare professionals communicate and connect. Even when miles apart, individuals can establish supportive relationships, share experiences and information, and sometimes simply vent. Bionews Services, a leading online health, science and research publication company, has been rolling out its…

Normalizing the cardiac levels of frataxin via gene therapy or an alternative strategy could be an effective treatment for cardiac symptoms in patients with Friedreich’s ataxia (FA), as suggested by three-dimensional (3D) heart tissues made in the lab, a study suggests. The study, “Correlation between frataxin…

Friedreich’s ataxia can occur as a late-onset disease, with symptoms appearing after age 50, a case-report shows. Late-onset cases lack the typical symptoms and disease progresses slowly, highlighting the need for genetic testing in cases of older patients showing difficulty coordinating movements or other atypical presentations to confirm the diagnosis. The…

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

An individual’s ability to control facial muscles might be better than other tools commonly used to measure disease progression among patients with advanced Friedreich’s ataxia (FA), a study says. The findings in “Oral mobility reflects rate of progression in advanced Friedreich’s ataxia,” were published recently in the Annals…