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…
Suppressing a protein that promotes the inflammation associated with Gaucher and other lysosomal storage diseases could lead to new treatments for the conditions, researchers say. Scientists from the Cincinnati Children’s Hospital Medical Center and the University of Lübeck in Germany discovered that a protein called complement component 5a (C5a) and…
Coenzyme Q10 (CoQ), a naturally occurring antioxidant, partially restored the function of a cell model of Gaucher disease. These artificially produced cells can be used in the future to study the disease and may lead to potential treatments, according to new research. The study, “Coenzyme Q10 partially restores…
Genetic screening for Gaucher disease identifies many patients that may never experience symptoms, according to a new study, and researchers argue that the benefits of early diagnosis of potentially harmful genetic mutations outweigh the negatives. In the study, “Children with type 1 Gaucher disease: Changing profiles in the 21st century,” the…
Cerdelga (eliglustat) pills are as effective and safe as the injectable drug Cerezyme (imiglucerase) as a maintenance therapy for Gaucher disease after stabilizing patients on Cerezyme, according to the Phase 3 ENCORE clinical trial. The results of the four-year study were reported in the article, “Eliglustat Maintains Long-term Clinical Stability…
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…
Small molecule chaperone therapies may play an increasingly important role in the treatment of lysosomal storage disorders such as Gaucher disease, according to a review published in the journal Neural Regeneration Research.
A new screening device called the Seeker System, which detects lysosomal storage disorders (LSDs) like Gaucher disease in newborns, has received de novo clearance from the U.S. Food and Drug Administration (FDA). The de novo classification offers an alternative pathway to classify novel types of medical devices of…
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,…
The Committee for Medicinal Products for Human Use (CHMP) has adopted a positive opinion recommending the granting of a marketing authorization for Yargesa (miglustat), for the treatment of adults with mild-to-moderate type 1 Gaucher disease. Yargesa is a generic of Zavesca, which has been authorized in the European…
