News

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.

Seelos Therapeutics received a Notice of Allowance from the U.S. Patent and Trademark Office (USPTO) covering the parenteral, or non-oral administration of SLS-005 (trehalose) for the treatment of neurodegenerative diseases characterized by abnormal protein aggregates.  The Notice of Allowance allows Seelos Therapeutics to finalize a patent — number…

A glance around the walls of Barry J. Byrne’s office reveals a lot about the pediatric cardiologist who runs the Powell Gene Therapy Center at University of Florida (UF). In one corner is an unusual painting by 9-year-old Will Barkowsky of Jacksonville, Fla. Will, the first boy with…

People with Friedreich’s ataxia should consult their cardiologist on a regular basis, as imaging of the heart considered with disease-related mutation repeats may identify those at high risk of cardiac problems up to five years before symptoms become evident, a study suggests. The study, “Predictors of Left Ventricular Dysfunction…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Minoryx Therapeutics’ lead investigational therapy leriglitazone (MIN-102) has been granted orphan drug designation by the European Commission for treating patients with Friedreich’s ataxia (FA). The European Commission’s decision follows a similar designation granted by the U.S. Food and Drug Administration in October. Orphan designation is given to investigative therapies…

Scoliosis, an abnormal curvature of the spine, is highly prevalent in children with Friedreich’s ataxia (FA), predominantly caused by right-sided thoracic curves and commonly associated with a “hunchback,” a study describes. Early onset of scoliotic deformities, before age 10 and when bones are still immature, also is frequent…

Reactivativation of the Nrf2 pathway, which is impaired in the nerve cells — or neurons — of patients with Friedreich’s ataxia (FA), leads to the re-establishment of proper neuron development and maturation, a mouse study shows. The study, “Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich’s…

Leriglitazone (MIN-102), an investigational oral treatment by Minoryx Therapeutics, has been granted orphan drug status by the U.S. Food and Drug Administration (FDA) for treating patients with Friedreich’s ataxia (FA). Orphan drug status qualifies Minoryx for various incentives meant to expedite clinical testing and possible approval…