Children with type 1 Gaucher disease are more likely to experience social withdrawal, anxiety, and depression with poorer health-related quality of life than their peers without the disorder, researchers suggest. However, no such problems were observed in young adults who have the disorder. The study, “Quality of…
Children and adults with a rare genetic profile causing type 1 Gaucher disease (GD1) may exhibit mild symptoms and not require treatment, research suggests. The study, “The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling,” was…
Thermo Fisher Scientific said it has developed a new test that will allow reproductive health investigators to screen 420 genes for markers of several disorders, including Gaucher disease. This new approach combines several stand-alone tests into a single assay. The Human Genome Project has estimated that humans…
The U.S. Food and Drug Administration (FDA) has lifted the clinical hold on a Phase 1/2 trial designed to test the gene therapy candidate PR001 in patients with type 2 Gaucher disease. The team at Prevail Therapeutics expects to initiate patient dosing in the first half of 2020.
Treatment with ambroxol — a medication used to treat respiratory conditions associated with excessive mucus — reversed bone damage and decreased the excessive liver and spleen volume of a 5-year-old girl with Gaucher disease (GD) type 1, a case study shows. Titled “Ambroxol improves skeletal and hematological…
Gaucher disease patients on enzyme replacement therapy may be prone to psychiatric disorders, according to an Egyptian team of researchers. Their study, “Psychiatric manifestations in Egyptian Gaucher patients on enzyme replacement therapy,” was published in the Journal of Psychosomatic Research. To date, there are few…
A case report describing a man who was diagnosed with multiple myeloma and found to be a Gaucher disease carrier highlights the increased risk for cancer, especially multiple myeloma, associated with Gaucher disease. The case study, “A 30-Year-Old Carrier of Gaucher Disease with Multiple Myeloma,”…
A patient with type 1 Gaucher disease (GD1) was diagnosed with corticobasal syndrome, a rare condition that causes some of the same symptoms seen in Parkinson’s disease, researchers report. The study, “Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of…
Three pediatric cases of Gaucher disease (GD) with unprecedented brain magnetic resonance imaging (MRI) changes mainly affecting the thalamus and/or dentate nucleus were recently described in a case report. The thalamus is a brain structure responsible for relaying information from sensory receptors to proper brain regions where it can…
Motor and sensory-related brain networks do not work efficiently in children with type 1 Gaucher disease (GD), but this disrupted performance appears to remain stable over time, researchers report. Their findings were published in the study, “Altered brain functional network in children with type 1 Gaucher…
