Understanding the progressive changes associated with Gaucher disease (GD) may provide useful information to develop more effective therapies. In recent research, scientists at Cincinnati Children’s Hospital Medical Center used mice to follow the temporal evolution of neurobehavioral dysfunctions and brain pathology triggered by GD. The study “Progression of Behavioral and…
Patients with type 1 Gaucher disease being treated with VPRIV (velaglucerase alfa) can safely transition to Cerdelga (eliglustat) or Cerezyme (imiglucerase) and maintain clinical stability, according to a new study that draws on data from the ENCORE trial. The study, “Stability Is Maintained In Adults With Gaucher Disease Type 1 Switched From…
Targeting mitochondrial dysfunction and the improper production of glucocerebrosidase, the faulty protein in Gaucher disease (GD), may be a promising therapeutic approach for the treatment of neurological symptoms associated with GD, according to a new study. The study, “Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in…
Researchers have identified a new marker present in the blood of type 1 Gaucher disease (GD) patients that can potentially be used in disease diagnosis and progression, according to a study published in the journal FEBS Open Bio. The study, “Elevation Of Glycoprotein Nonmetastatic Melanoma Protein…
Researchers in the U.S. identified a novel small molecule that is able to effectively reduce the manifestation of Gaucher Disease in a mouse model of the condition. According to the researchers, the molecule called Genz-682452 “holds promise as a potential therapeutic approach for patients with type-3 [Gaucher Disease]”
Researchers are exploring the use of next-generation sequencing (NGS), a technique used to analyze genes and find mutations, as a way to diagnosis Gaucher disease (GD) in a fetus. Prenatal disease screening using NGS has the potential to be used as a secondary diagnostic option for lysosomal diseases, and researchers…
A potential clinical biomarker — a measurable disease indicator in the blood or tissues — for Gaucher disease (GD) may have been identified in a recent study. The study, “Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models,” was a collaborative effort among researchers…
Dantrolene could be a new therapeutic agent to improve neurological function and disease symptoms in neuropathic Gaucher disease (nGD), according to a collaborative research study developed on a mice model and led by Cincinnati Children’s Hospital Medical Center. The study, “Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in…
Researchers from Cincinnati Children’s Hospital Medical Center in Ohio described in detail the brain and behavioral abnormalities of a mouse model of chronic neuronopathic Gaucher disease. This information is invaluable and can be used for experimental designs to evaluate novel therapies for the disease in the future.
A new study identified a group of genes that may be involved in the development and severity of Gaucher disease. Researcher also found that memantine, a drug used in the treatment of Alzheimer’s disease, increased the life span of animal models with Gaucher disease (GD). The study, titled “Identification of…
