News

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…

To mark Friedreich’s Ataxia Awareness Month, the Friedreich’s Ataxia Research Alliance (FARA) is hosting a Research Flash Talk series covering ongoing studies of gene and protein function, as well as clinical outcomes and insights. A flash talk refers to a short presentation — typically five minutes or less,…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

The COVID-19 pandemic will delay development work on a potential gene therapy, and the start of a planned and possibly pivotal clinical trial in the small molecule treatment PTC743, both intended for people with Frederich’s ataxia (FA), PTC Therapeutics said in a quarterly report. PTC now expects to start…

Scientists discovered two microRNAs — tiny RNA molecules that control the activity of several genes — playing a key role in the development of Friedreich’s ataxia (FA) that may be promising candidates for its treatment. Their findings were reported in the study, “A Comprehensive Transcriptome…