News

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…

Retrotope has dosed the first patient with RT001, an experimental oral treatment for Friedreich’s ataxia (FA), in a Phase 2/3 clinical trial currently recruiting adult patients at sites in the U.S. Three clinical centers are now open for enrollment — Collaborative Neuroscience Network in California,…

The Muscular Dystrophy Association (MDA) has awarded AavantiBio $1,076,232 to advance the biotechnology company’s development of a gene replacement therapy for Friedreich’s ataxia (FA). Awarded through the MDA Venture Philanthropy drug development program, the funds will help launch production of the clinical gene vector…

A natural genetic mechanism may help reverse the genetic defect within the FXN gene — excessive repeats of a portion of DNA, called GAA triplets — that underlie Friedreich’s ataxia (FA), a recent study done in yeast shows. Researchers have found that a process that occurs while cells are…

The first therapy development program for neurological disorders launched by Exicure will focus on Friedreich’s ataxia (FA), the company announced. Its FA program will be developed in collaboration with the Friedreich’s Ataxia Research Alliance (FARA), it added. FA is caused by the expansion of the GAA trinucleotide repeat in…

A Phase 1 trial evaluating Chondrial Therapeutic’s investigational therapy CTI-1601 as a treatment for Friedreich’s ataxia patients has started dosing patients. The therapy was recently granted rare pediatric disease and fast track designations by the U.S. Food and Drug Administration (FDA), in addition to its…

Speech disorders like dysarthria are a common and disabling symptom of Friedreich’s ataxia (FA), but they are largely ignored in clinical trials. More research is needed to develop better ways of assessing and intervening to address them, a review study reports. It also suggests various assessment tests and treatment approaches…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.