News

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Increased thickness of the lower left chamber of the heart — the left ventricle — is one of the most common structural heart abnormalities found in patients with Friedreich’s ataxia and also correlates with genetic disease severity in adults, a study has found. The study, “Left ventricular structural…

SNH6, a new dual-action therapy, has the potential to restore mitochondria function and may ultimately be used to treat cardiomyopathy in patients with Friedreich’s ataxia (FA), a mouse study found. The compound’s dual mechanism allows it to both…

The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…

The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.

Expecting to award roughly $18 million this year in grants to support research in neuromuscular diseases, the Muscular Dystrophy Association (MDA) continues to be a leader in efforts to better treat and otherwise ease life for those touched by Friedreich’s ataxia as well as muscular dystrophy and other,…

Abnormally low levels of the protein HAX-1 correlate with decreased amounts of frataxin in cells from people with Friedreich’s ataxia (FA), suggesting this protein could be used as a biomarker in the disease. The study with that finding, “Frataxin deficiency in Friedreich’s ataxia is associated with reduced…

Gene therapies — after a tragedy kicked them back to the lab two decades ago — are beginning to come into their own, making possible the progress in gene-targeted and combination treatments for neuromuscular diseases once thought unimaginable. But many challenges remain — from the likelihood of no “one and…

Kevin Schaefer hadn’t been in an airport since he was 4 years old, so he had been looking forward to flying from his home in Cary, North Carolina, to Anaheim, California, in June for the 2019 Cure SMA Conference. As it turned out, his experience didn’t go as expected.

Patients with Friedreich’s ataxia (FRDA) who have trouble standing upright are at greater risk of losing their ability to walk, a report based on a large natural history study found. Standing and balance tests could be used to separate groups of…