It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
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,…
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…
The Friedreich’s Ataxia Research Alliance (FARA) and the University of California Los Angeles (UCLA) have joined forces to sponsor a Friedreich’s ataxia (FA) patient symposium in Torrance, California, on Feb. 23. The symposium will be an educational event for people living with FA, including patients and families.
An attorney in Sioux Falls, South Dakota, has taken up the challenge to raise $75,000 before Christmas to fund a Friedreich’s ataxia (FA) study project at Sanford Research, after his daughter was diagnosed with the neuromuscular condition. Brendtro started a crowdfunding campaign, The Finish Line Fund, to fund the…
The European Medicines Agency (EMA) has granted orphan medicinal product designation to Agilis Biotherapeutics’ gene therapy candidate AGIL-FA, being developed for the treatment of Friedreich’s ataxia (FA). FA is a neurodegenerative disease caused by a defect in the frataxin (FXN) gene that reduces production of the…
Haji Babar Naseer Sheikh was diagnosed with Friedreich’s ataxia (FA) soon after earning his bachelor’s degree. His worsening neurological symptoms and muscular dystrophy left the young Pakistani man unable to speak and move. But Babar couldn’t find the support he needed in his own country, so he decided to…
Reata Pharmaceuticals has enrolled the first patient in the pivotal Part 2 of its MOXIe study designed to evaluate omaveloxolone (RTA-408) in Friedreich’s ataxia (FA) patients. Omaveloxolone is a small molecule Nrf2 activator. Nrf2 is a transcription factor that activates the activity of genes involved in promoting mitochondrial function.
Omaveloxolone, a drug developed by Reata Pharmaceuticals, may slow disease progression and promote the recovery of lost neurological function in patients with Friedreich’s ataxia (FA). The encouraging results come from the first of the two-part MOXIe Phase 2 trial (NCT02255435) that is evaluating the drug’s efficacy and…
The Friedreich’s Ataxia Research Alliance is holding a fun and easy photo challenge to raise global awareness of the disease. Photography buffs and amateurs can submit pictures of themselves with #CureFA signs to help the alliance mark Friedreich’s Ataxia Awareness Day on Saturday, May 20. You’ll need to submit the photos to the…
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