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A single infusion of AVR-RD-02, Avrobio’s experimental gene therapy for Gaucher disease type 1, was able to lower the levels of two disease biomarkers within three months in the first patient dosed in an ongoing Phase 1/2 trial, the company said. The investigational therapy also was safe…

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…

Note: This story was updated Nov. 10, 2020, to clarify that Foggin volunteers with the International Gaucher Alliance and does not hold a formal position with Prevail. In addition, the story has been corrected to note that the same PR001 gene therapy is being tested in both Gaucher and Parkinson’s…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…

The U.S. Food and Drug Administration (FDA) has given fast track designation to PR001, Prevail Therapeutics‘ investigational gene therapy for neuronopathic Gaucher disease. The FDA previously granted the therapy — now in an enrolling clinical trial in the U.S. — orphan drug and rare pediatric disease status; all aim…

A photo of a bespectacled young boy, his red baseball cap slightly askew as he  enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…

Neuronopathic Gaucher disease (nGD) induces an immune response that protects against viral infections in the brain, according to an early study in animals. Understanding how this happens and whether GD patients are more resistant to infection needs further studies, scientists said. The study, “Innate immune response…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

From tweeting disease facts to taking photos with licence plates, supporters worldwide are participating in International Gaucher Disease Awareness Month, set aside each October to bring global attention to the disorder and needs of the patient community. Gaucher disease, a disorder that can affect many organs and tissues, occurs…

An experimental gene therapy known as AVR-RD-02 has received orphan drug designation from the European Commission for the treatment of Gaucher disease type 1. In the European Union,…