A multicenter study shows that people with type 1 Gaucher disease (GD) may have higher levels of serum autoantibodies, but these patients showed no clinical signs of autoimmune disorders. The study, “Prevalence of autoantibodies in the course of Gaucher disease type 1: A multicenter study comparing Gaucher disease patients…
Noninvasive techniques measuring shear wave velocity in body tissues show potential at distinguishing Gaucher disease patients from other diseases with common symptoms, such as enlarged spleen. The study, “Are transient and shear wave elastography useful tools in Gaucher disease?” was published in the journal Blood Cells, Molecules & Diseases. Early…
Enzyme replacement therapy (ERT) in Gaucher disease patients has no significant impact on patients’ final height, suggests a small group retrospective study. The study, “Growth and final height of children with Gaucher disease: A 15-year follow-up at an Israeli Gaucher center,” was published in the journal Blood Cells,…
New research has found that certain cells in Gaucher disease patients exhibit a specific type of tension called endoplasmic reticulum (ER) stress, which may be linked to the development of the disease. The study, “UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease,” was published in the…
Patients with Gaucher disease type 1 are at an increased risk of gallbladder stones, a case report reports. The condition is often safely resolved with minimally invasive surgery, but authors highlight that Gaucher disease associated with certain symptoms may indicate gallbladder stones, so clinicians need to be aware of the condition. The study, “…
The enzyme replacement therapy based on taliglucerase alfa has shown a sustained safety profile accompanied by long-term effectiveness in children with Gaucher disease (GD). The study “Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase,” was published in…
A Swedish group of Gaucher patients showed clinical features never previously reported in this disease — a rapid and repetitive dystonia-like hyperkinetic movement disorder that may be unique to this group of people, researchers reported. The study, “Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients,” was published in…
Patients with Gaucher disease (GD) exhibit higher levels of several markers of antioxidant defense compared to healthy controls, a finding that highlights the alterations associated with the disease and the mechanisms triggered to prevent further damage. The study of these alterations, “Oxidative stress parameters of Gaucher disease type I patients,”…
Researchers conducted an enzyme replacement therapy study with a group of Gaucher disease patients and found just a small fraction of patients developed anti-drug antibodies. And, no correlation between antibody development and impaired clinical responses was found. The study, “Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease,” was published…
In a study involving an Egyptian cohort of patients with neuronopathic Gaucher disease, researchers observed that patients show diverse clinical outcomes that are markedly different from those exhibited by patients in other countries. The results are summarized in a study titled “Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in…