News

The U.S. Food and Drug Administration (FDA) has lifted the clinical hold on a Phase 1/2 trial designed to test the gene therapy candidate PR001 in patients with type 2 Gaucher disease. The team at Prevail Therapeutics expects to initiate patient dosing in the first half of 2020.

Treatment with ambroxol — a medication used to treat respiratory conditions associated with excessive mucus — reversed bone damage and decreased the excessive liver and spleen volume of a 5-year-old girl with Gaucher disease (GD) type 1, a case study shows. Titled “Ambroxol improves skeletal and hematological…

People with Gaucher disease (GD) show high levels of antibody-making plasma cells in bone marrow areas rich in abnormal Gaucher cells, a study reports. However, treatment with specific GD therapies can partly reverse these alterations. The study, “Bone Marrow Plasma Cell Burden in Gaucher Disease Correlates with…

Weakness at the connections between muscles and joints may affect bones and could contribute to the chronic fatigue felt by people with Gaucher disease (GD), a study found. Tendon stiffness could be “a sign of alarm,” its researchers said of this study into patients’ Achilles tendons, as…

A test that measures levels of glucosylsphingosine (or lyso-Gb1) in the blood may help diagnose Gaucher disease (GD) and distinguish between disease types, a study has found. The test proved useful in diagnosing newborns and was also accurate in placenta samples, suggesting that it could help diagnose the…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Four distinct genetic profiles in Gaucher disease (GD) patients within a single family highlight the variability in disease severity and its difficult diagnosis, a study reports. The study, “Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation…

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…