Using magnetic resonance imaging (MRI) to assess water- and fat-associated tissue changes may be used to identify and monitor bone damage in young people with Gaucher disease, researchers from Egypt suggest. The study, “Multi-parametric MR imaging using apparent diffusion coefficient and fat fraction in quantification of…
Prenatal delivery of a gene therapy restored the production of glucocerebrosidase — the deficient enzyme in Gaucher disease — prevented nerve cell death, and prolonged survival in a mouse model of Gaucher disease type 2, a recent study shows. Led by researchers at University College London,…
The large-scale production of glucocerebrosidase — an enzyme that is lacking in Gaucher disease — by genetically modifying plant roots is seen as a viable strategy for enzyme replacement therapy (ERT) to treat the disease, a recent study suggests. The process could become a safer and less expensive way to…
Using a mouse model, researchers have developed an improved method to accurately quantify the presence of glucosylsphingosine (Lyso-Gb1) — a diagnostic and treatment-response biomarker of Gaucher disease. The study, “A HILIC-MS/MS Method for Simultaneous Quantification of the Lysosomal Disease Markers Galactosylsphingosine and Glucosylsphingosine in Mouse Serum,” was…
A rare case of a patient with Gaucher disease type 1 who developed chronic myeloid leukemia — a blood cancer — and was treated simultaneously for both diseases was reported for the first time in Spain. The case report, “Gaucher disease and chronic myeloid leukemia: first…
Glucosylsphingosine (Lyso-Gb1) — a known diagnostic biomarker of Gaucher disease — is also the most reliable response biomarker to quantify how a patient is doing while under enzyme replacement therapy (ERT), according to a retrospective study. The study, “Glucosylsphingosine is a reliable response biomarker in Gaucher disease,”…
A potent small molecule called JZ-4109 increases the activity of glucocerebrosidase — the enzyme that is deficient in Gaucher disease — making it a potential new therapy for this disease, according to a recent study. The study, “β-Glucocerebrosidase modulators promote dimerization of β-glucocerebrosidase and reveal an allosteric binding…
Three possible new mutations in patients with Gaucher disease type 2 were identified by researchers in Turkey, who also found a higher-than-usual incidence of this rare subtype in the group studied, a case study reports. These findings of likely new mutations highlight the variability of this severe lysosomal storage disorder.
The combination of enzyme replacement therapy (ERT) and Zavesca (miglustat) substrate reduction therapy (SRT) for a limited period improved disease symptoms in two women with Gaucher disease type 1 (GD1), according to a case study. The study, “Combined miglustat and enzyme replacement therapy in two patients with…