The accumulation of fat molecules in the brain, particularly the molecules that accumulate in Gaucher disease patients, seems to fuel the progression of Parkinson’s disease, a new mouse study suggests. The findings help explain why patients with Gaucher’s have an increased risk for Parkinson’s disease and suggest that targeting fat…
Patients with Gaucher disease (GD) frequently develop bone disease, but the mechanisms underlying bone damage remain unknown. New research points to developmental defects and impaired secretion in the cells responsible for bone formation, called osteoblasts, in all three clinical subtypes of the disease. Particularly, researchers identified a key signaling pathway,…
Using 26 patients gleaned from an international Gaucher disease (GD) registry, researchers have identified common characteristics of Gaucher disease type 3. The long-term follow-up of these patients should help identify treatment outcomes and better understand the clinical manifestations of GD type 3. The study “Characteristics of 26 patients with type…
Treatment with Cerdelga (eliglustat) leads to clinically meaningful long-term improvements in hemoglobin and platelet levels in patients with Gaucher disease type 1 (GD1), data from long-term Phase 2 and Phase 3 ENGAGE trials show. The results were recently presented at the 59th American Society of Hematology (ASH)…
Using dried blood samples for measuring the levels of Gaucher disease biomarker glucosylsphingosine is now possible with a newly developed method by a team of researchers at Cincinnati Children’s Hospital Medical Center. The study, “A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response,” appeared in…
An ongoing clinical trial in the United Kingdom aims to determine factors that may predict the severity of Gaucher disease (GD) in adults and children, along with patients’ response to therapy. It focuses particularly on how Gaucher may lead to other diseases of the bone and brain, or to cancer. The observational study (NCT03240653) is for patients with…
Researchers found that combining a new, noninvasive technique called trabecular bone score (TBS) with bone mineral density techniques helps to better identify Gaucher disease patients at increased risk for bone fractures. The study, “Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density,” was published in the journal …
Enzyme replacement therapy (ERT) was associated with decreased levels of inflammatory mediators in a group of patients with Gaucher disease (GD) type 1. The study “Could enzyme replacement therapy promote immune tolerance in Gaucher disease type 1?” was published in the journal Blood Cells, Molecules & Diseases. GD was…
Structural changes, including the abnormal distribution of lysosomes, were detected in neurons of a mouse model of Gaucher disease (GD) and identified as early signs preceding disease symptoms, a study suggests. The study “Altered lysosome distribution is an early neuropathological event in neurological forms of Gaucher disease” was published…
An analysis of four clinical trials testing Cerdelga (eliglustat) for Gaucher disease patients shows the treatment is safe and without serious adverse events. The study, “A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency,…