News

Neurofilament light chain may be a new blood biomarker to monitor disease severity and response to treatment among people with Friedreich’s ataxia (FA), particularly younger ones, a study suggests. The study, “Neurofilament light chain as a potential biomarker of disease status in Friedreich ataxia,” was published…

Chondrial Therapeutics has merged with Zafgen, giving rise to Larimar Therapeutics, which will continue working to advance CTI-1601 as a possible frataxin replacement therapy for Friedrich’s ataxia (FA). Larimar’s arrival came about five months after Zafgen and Chondrial announced they had entered into a merger agreement. “We…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

Children younger than age 8 with symptoms of Friedreich’s ataxia are at a higher risk of faster disease progression and earlier loss of walking abilities, a single-center natural history study in Belgium reported. The findings were consistent with previous results from another natural history study, and may help to guide treatment…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Endurance exercise prevented the onset of symptoms without the need to restore frataxin production in a mouse model of Friedreich’s ataxia (FA), a study shows, potentially paving the way for clinical research on the impact of endurance exercise in patients.  The…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.

AVXS-401, an experimental gene therapy for Friedreich’s ataxia (FA), is safe, well-tolerated, and leads to clinically meaningful improvements in mice and primate models of the disease, early studies have found. According to researchers, these promising findings suggest that AVXS-401 is safe for human use and support beginning…

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…