News

An in-depth characterization of a mouse model of Gaucher disease shows that it effectively mimics many of the visceral and neurological aspects of the disorder. Because of this, these mice may be of great value as tools in preclinical efforts to develop new treatments for Gaucher disease, the researchers…

A newly identified mutation in a region of the GBA gene that lacks  information necessary to make the resulting beta-glucocerebrosidase (GCase) protein was found in a woman with Gaucher disease (GD) type 1. That condition is described in the case report, “A novel mutation deep within intron 7 of…

Gene therapy targeting nerve cells restored the production of beta-glucocerebrosidase (GCase) — the defective enzyme in Gaucher disease — in a mouse model of the disorder, preventing neurodegeneration and prolonging survival, a recent study shows. The study, “Systemic AAV9 gene therapy using the synapsin I promoter…

Lung manifestations are frequent among children with Gaucher disease, with recurrent chest wheezing, greater disease severity, and low platelet counts among the risk factors for developing such complications, an Egyptian study reports. To enable early detection, the researchers recommend careful monitoring — even in the absence of clinical…

White spots in the field of vision, called vitreous opacities or floaters, may be associated with worse neurological symptoms in people with Gaucher disease type 3, according to a small study that recommends comprehensive eye examinations for these patients. The study, “White vitreous opacities in five…

The U.S. Food and Drug Administration (FDA) has approved Avrobio‘s application to expand to the U.S. its ongoing Phase 1/2 trial testing its gene therapy candidate AVR-RD-02 in people with type 1 Gaucher disease. The trial (NCT04145037), called GAU-201, is investigating the safety and efficacy…

A patient with type 2 Gaucher disease received treatment with Prevail Therapeutics‘ investigational gene therapy PR001 under a compassionate use program, the company said. The treatment was administered following approval by an international regulatory authority. PR001 uses a modified, harmless version of an …

A case report about two sisters in Brazil with Gaucher type 1 disease (GD1) and severe bone disease represents a new genetic profile, researchers say. Although the uncommon genetic alterations have been reported previously, researchers suggest these are the first known GD patients with this combination of two mutations.

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…