News

The first known case of atypical hemolytic uremic syndrome (aHUS) and adult-onset cobalamin C deficiency, a metabolic disorder, occurring together in the same person was described in a recent case report. The report, “Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in…

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…

Ultomiris (ravulizumab-cwvz) is safe and effective at resolving acute and life-threatening complications of atypical hemolytic uremic syndrome (aHUS) in adults with thrombotic microangiopathy (TMA), Phase 3 clinical trial data shows. Trial findings were reported in the study, “The long-acting C5 inhibitor, Ravulizumab,…

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.

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…

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 Committee for Medicinal Products for Human Use (CHMP), a branch of the European Medicines Agency (EMA), is recommending that Alexion Pharmaceuticals‘ Ultomiris (ravulizumab-cwvz) be approved to treat children and adults with atypical hemolytic uremic syndrome (aHUS). A final decision from the European Commission is expected in the…

FFF Enterprises and Bionews announced today that both rare and orphan disease advocates are joining forces to provide patients with resources to help them connect as a community and continue to manage their health during this time when many are finding themselves alone. Recognized as the nation’s leading supplier of…

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…