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. …
A substrate reduction therapy (SRT) candidate known as Genz-667161 effectively reduced the buildup of glucocerebroside in the brain, improved survival, and reversed changes in gene activity in a mouse model of neuronopathic Gaucher disease, a study showed. The study, “Substrate…
People with type 1 Gaucher disease have higher blood levels of two pro-inflammatory proteins than do healthy individuals, a small study suggested. The proteins may be biomarkers to help monitor the condition, as well as possible targets for treatment development, its investigators said.
After two years of Cerdelga (eliglustat) therapy, patients with Gaucher disease (GD) type 1 maintained or improved their spleen or liver health, and their red blood cell and platelet counts, according to a new study of real-world data.
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…
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…