News

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

An investigational gene therapy aiming to restore GBA gene function — which is defective in people with Gaucher disease — showed efficacy both before and after symptom development in a mouse model of the disorder, a study reported. …

People with Gaucher disease are not at increased risk of severe disease if they become infected with SARS-CoV-2, the virus that causes COVID-19, new research indicates. The results were published in the journal Molecular Genetics and Metabolism, in the study “Gaucher disease and SARS-CoV-2…

Eli Lilly reached an agreement to acquire Prevail Therapeutics, including its clinical program for PR001, an experimental one-time gene therapy for neuronopathic Gaucher disease. Prevail has a portfolio…

A bone marrow transplant successfully reduced the severe lung involvement that developed in a 5-year-old boy with Gaucher disease who was receiving enzyme replacement therapy (ERT), a study reported. The boy was described in a previous report as the youngest patient…

The U.S. Patent and Trademark Office has issued a patent related to PR001, Prevail Therapeutics‘ investigational gene therapy for neuronopathic Gaucher disease. The composition of matter patent grants coverage until Oct. 3, 2038, excluding potential extensions or additional related patent filings. Specifically, it concerns the modified,…

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

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…