News

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

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.

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…