News

A gene therapy designed to simultaneously deliver a healthy version of the GBA1 gene and the GDNF gene to cells in the brain eased neurological problems, prevented nerve cell death, and extended survival in a mouse model of Gaucher disease, a study shows. The animals were designed to…

Treatment with Cerdelga (eliglustat), a substrate reduction therapy approved in the U.S. for adults with type 1 Gaucher disease, was safe and showed therapeutic potential in children with the condition, a real-world study finds. “This case series highlights real-world experience with [Cerdelga] in pediatric [Gaucher type 1] patients,…

An enlarged spleen or low platelets counts — or both — in a person with difficult-to-diagnose complaints may be a sign of type 1 Gaucher disease (GD1), a study suggests. Doctor should assess the activity of the beta-glucocerebrosidase enzyme — the protein defective in Gaucher disease — in dried…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

Updated, six-month data from a Phase 1/2 trial show a continued drop in the levels of two disease biomarkers in the first patient given a single infusion of AVR-RD-02, Avrobio’s experimental gene therapy for Gaucher disease type 1, the company announced. Results obtained by…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to two gene therapies that M6P Therapeutics is developing — one intended for Gaucher disease, the other aiming to treat the inherited metabolic disorder mucolipidosis. The regulatory agency also awarded six rare pediatric disease designations to…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

A set of small molecules called microRNA (miRNA), found in a recent study, show potential both as biomarkers and as therapeutic targets of Gaucher disease. Determining differences in the levels of these miRNA among Gaucher patients could lead to insights into disease mechanisms and to new therapeutic targets, as…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…