Measuring glucocerebrosidase (GCase) activity in dried blood spots is a reliable and cost-effective method to diagnose Gaucher disease early in individuals with splenomegaly (enlarged spleen) and/or thrombocytopenia (low blood platelet count), a study has found. The study, “High risk screening for Gaucher disease in patients with…
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…
Most people with Gaucher disease (GD) would like to be informed by their health care provider at diagnosis of their risk of developing Parkinson’s disease, a survey among U.S. patients shows. The study, “Knowledge and attitudes of Parkinson’s disease risk in the Gaucher population,” was published…
Levels of the biomarkers cathepsin D, cathepsin S, YKL-40, and progranulin are not accurate enough to measure disease activity in Gaucher disease patients, but might inform the severity of disease-related manifestations such as skeletal disease and splenomegaly, a new study shows. The study, “Aberrant…
Glucosylsphingosine (lyso-Gb1) seems to be a useful biomarker for monitoring disease activity in children with Gaucher disease, helping physicians determine when enzyme replacement therapy should be initiated, a study suggests. The study, “Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease,” was…
Non-motor symptoms associated with the eventual development of Parkinson’s disease are prevalent in Gaucher disease type 1 patients — people who already are at a higher risk for the neurodegenerative disorder, a study shows. Based on these findings, the researchers encourage people with Gaucher disease type 1 —…
Despite its well-known role in inflammation, the microRNA molecule known as miR-155 does not seem to be a promising target for the treatment of Gaucher disease, as its inactivation failed to counteract the shorter lifespan and robust inflammatory state seen in zebrafish models of the condition, a study reports.
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…
An excess of sphingolipids — a hallmark of Gaucher disease — contributes to an imbalance in bone formation and degradation, leading to the development of bone disease, according to researchers. Their study, “Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease,” was published in the journal…
Hepatosplenomegaly — enlargement of the liver and spleen — can develop as a result of Gaucher disease in adults, according to a case report. The case report, “Gaucher disease in an adult: A rare cause of hepatosplenomegaly in adults,” was published in the journal Northern…