A new model for predicting the risk of long-term complications in patients with type 1 Gaucher disease (GD) was designed based on a 17-year study that measured a naturally-occurring enzyme that is a marker of GD activity (chitotriosidase) before and after the start of enzyme replacement therapy (ERT). The study,…
Researchers suggest that a compound called ambroxol should be explored in clinical trials as a potential drug for Gaucher disease. Their study in non-human primates showed that the drug increased the activity of brain glucocerebrosidase — the enzyme lacking in this disease. Since patients with Parkinson’s disease might also have mutations…
Bone disorders in Gaucher disease patients need to be specially considered, suggests a study published in the Journal of Bone and Mineral Research. This can help with early diagnosis and possible treatment of the disease with therapies like enzyme replacement therapy (ERT).
Great effort should be made to improve quality of life, reduce fatigue and encourage normal participation in school and work activities in people with Gaucher disease. These are some of the goals determined by a group of international experts as part of a new set of goals that they developed.
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…
