News

Arimoclomol, Orphazyme’s investigational therapy for Gaucher disease and other disorders, leads to clinically meaningful, dose-dependent reductions in liver and spleen size in patients with type 1 or 3 Gaucher, according to top-line results of a Phase 2 trial. Despite failing at its primary…

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…

Using a non-invasive high-resolution imaging method, physicians found that long-term treatment with Cerezyme (imiglucerase) followed by a switch to Cerdelga (eliglustat) seemed to prevent or delay bone loss in a man with type 1 Gaucher disease. The findings were described in a case report, “…

People with type 1 Gaucher disease have higher blood levels of two pro-inflammatory proteins than do healthy individuals, a small study suggested. The proteins may be biomarkers to help monitor the condition, as well as possible targets for treatment development, its investigators said.

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.

After two years of Cerdelga (eliglustat) therapy, patients with Gaucher disease (GD) type 1 maintained or improved their spleen or liver health, and their red blood cell and platelet counts, according to a new study of real-world data.

Although standard therapies for Gaucher disease (GD) usually reduce liver damage, some forms of treatment — particularly enzyme replacement therapy (ERT) — seem to be linked to a higher incidence of fatty liver disease, a study found. The findings highlight the importance of constantly monitoring liver health…

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…

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.