News

A first patient has been treated in a Phase 1/2 trial of AVR-RD-02, Avrobio‘s investigational gene therapy for Gaucher disease type 1, the company announced. “The first patient dosed is an important milestone for the Gaucher disease community and our AVR-RD-02 program,” Geoff MacKay, president and CEO of Avrobio, said…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

Lysogene has entered into a collaborative research agreement with Yeda Research and Development, a commercial branch of the Weizmann Institute of Science, to develop a gene therapy for neuronopathic Gaucher disease that affects the brain and spinal cord, the biopharmaceutical company announced. The therapy also…

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…