News

A single injection of a liver-targeted gene therapy in mice leads to sustained production of a working version of glucocerebrosidase, the altered enzyme in people with Gaucher disease, research shows. Carlos J. Miranda, PhD, from Freeline, will share these results in a talk titled “Liver-Directed AAV…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

Polyneuropathy — which refers to damage in peripheral nerves — is not a significant feature of Gaucher disease, particularly in people with the type 3 form, according to a new study. The research, “Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series,” was…

Myelodysplastic syndrome (MDS) is rare in people with Gaucher disease type 1 (GD1) but because it is difficult to detect it may lead to under-diagnosis in this patient population, a new study suggests. Titled, “Gaucher disease, myelodysplastic syndrome and ICUS,” the study was published in the…

Although able to reduce bleeding, long-term enzyme replacement therapy (ERT) did not correct alterations in platelets and other clotting molecules in people with Gaucher disease (GD), a new study shows. The study, “Platelet function defects in patients with Gaucher disease…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Most people with Gaucher disease (GD) would like to be informed by their health care provider at diagnosis of their risk of developing Parkinson’s disease, a survey among U.S. patients shows. The study, “Knowledge and attitudes of Parkinson’s disease risk in the Gaucher population,” was published…

Oral treatment with ambroxol — an investigational chaperone therapy — plus enzyme replacement therapy (ERT) was found to be safe over a course of 4.5 years, and helped partially restore glucocerebroside activity in people with neuronopathic forms of Gaucher disease (GD), a small trial suggests. The trial, in…

A laboratory test using blood samples could help identify Gaucher disease (GD) patients likely to respond to experimental chaperone therapies, a study reports. The assay is based on macrophages, white blood cells particularly affected in GD, and could help optimize the effectiveness of chaperone therapies…

The U.S. Food and Drug Administration (FDA) granted orphan drug designation to AVR-RD-02, a gene therapy candidate for the treatment of Gaucher disease. AVR‑RD‑02, being developed by Avrobio, recently advanced to its first clinical study of the therapy’s safety and effectiveness…