News

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

Measuring the levels of glucosylsphingosine (Lyso-Gb1) — a diagnostic biomarker of Gaucher disease — in dried blood spots is a reliable method to monitor the effectiveness of enzyme replacement therapy (ERT) in people with the disease, a study shows. The findings, based on Lyso-Gb1 monitoring over more…

Children with Gaucher disease who are on enzyme-replacement therapy (ERT) continue to have abnormal levels of immune cells, despite partial improvements, a study suggests. Therefore, these patients may need long-term ERT to restore their immune responses to desired levels, scientists say. The study, “Downregulation of…

In Spain, a quarter of Gaucher disease patients being given enzyme replacement therapy (ERT) infusions at hospitals experienced dose interruptions due to the COVID-19 pandemic, a study reports. Greater attention needs to be given to ways of ensuring continued treatment for these people, including ways of ensuring at-home use, its…

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…