Liver fibrosis is a common condition in patients with Gaucher disease type 1 (GD1) and can be predicted by factors such as disease severity and spleen removal, according to new research from Italy. The findings also indicate that stable enzyme replacement therapy (ERT) is associated with less fibrosis.
Delivery of a systemic gene therapy restored the production of glucocerebrosidase — the deficient enzyme in Gaucher disease — in several organs, eased symptoms, and prolonged survival in mouse models of Gaucher disease, a recent study shows. The study, “Delivery of Gba Gene Using AAV9 Vector Therapy as…
Newly discovered data on the activity of glucocerebrosidase after treatment with Sanofi Genzyme’s Cerezyme (imiglucerase) — an enzyme replacement therapy for Gaucher disease — supports current guidelines for its administration every two weeks, according to researchers. Their study, “Intra‑monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher…
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…
Most Filipino patients with Gaucher disease carry severe mutations in the GBA gene and exhibit Gaucher disease type 3, researchers from the Philippines found. The study, “Genetic and clinical characteristics of Filipino patients with Gaucher disease,” was published in the journal Molecular Genetics and Metabolism Reports. Gaucher disease…
Patients with Gaucher disease type 1 who never received treatment with enzyme replacement therapy died of septicemia — a blood infection — nine times more often than the general population, followed by liver disease, suicide or drug overdose, and cancer. Cancer, however, was the most common cause of death in these patients. The…
The plant-based enzyme replacement therapy Elelyso (taliglucerase alfa) improves bone marrow response in adult patients with type 1 Gaucher disease, according to researchers. The findings of the study, “Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa,” were published in The…
Shortening the duration of VPRIV (velaglucerase alfa) infusions from 60 to 10 minutes does not affect the safety or effectiveness of the enzyme replacement therapy in patients with Gaucher disease type 1, a study reports. The study, “Rapid intravenous infusion of velaglucerase‐alfa in adults with type 1 Gaucher…
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…
