Japanese researchers analyzed brochoalveolar lavage fluid (BALF) collected from the lungs to confirm a diagnosis of perinatal lethal Gaucher disease (PLGD) in an infant who was barely two months old — leading them to conclude that BALF may be a useful tool for early diagnosis. Their report, “Bronchoalveolar lavage fluid…
The death of a 15-year-old boy with an aggressive form of heart-related Gaucher disease underscores the importance of early diagnosis of the condition, physicians said. Their case study of the teen, whose disease was caused by two copies of a mutation known as D409H, was published in the journal Cardiology…
The U.S. Food and Drug Administration (FDA) will now let Mountain View, Calif.-based 23andMe market its $199 genetic tests to adults who want to know their risk of Gaucher disease and nine other hereditary conditions. The test, approved April 6 by the FDA, is 99 percent accurate and is based on disease biomarkers…
Researchers have identified useful insights into the molecular workings underlying Gaucher disease that may reveal promising new targets for new therapeutic strategies. The study, “Identification Of A Feedback Loop Involving Beta-Glucosidase 2 And Its Product Sphingosine Sheds Light On The Molecular Mechanisms In Gaucher Disease,” was published in the…
A noninvasive way of screening newborns for Gaucher disease, using dried blood spots, is both efficient and feasible, according to a recent Chinese study. Besides making early treatment possible so as to prevent irreversible damage, screening can provide information about the number of affected individuals in a region to inform health policy. But starting…
A review of the physiological mechanisms, clinical manifestations, and available treatments of Gaucher disease (GD) has been published. The study, ”A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments,” appeared in the International Journal of Molecular Sciences. The research team was led by Jerome Stirnemann, MD, PhD, from the…
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.
