The Assistance Fund is now providing financial assistance to help patients living with Gaucher disease (GD). The new fund will provide GD patients and families with financial aid for copayments, coinsurance, deductibles, health insurance premiums and incidental medical expenses related to their disease. “Gaucher disease is a rare and complex…
Health Canada has approved Cerdelga (eliglustat capsules), manufactured by Sanofi Genzyme, for treating Gaucher disease type 1 (GD1) — three years after the U.S. Food and Drug Administration gave its blessing to the drug. The company says Cerdelga is currently the only first-line oral therapy for patients who are specific enzyme metabolizers, as…
The National Gaucher Foundation has endorsed a clinical study designed to identify biomarkers of Parkinson’s disease (PD), and to evaluate the connection between this disease and the occurrence of genetic mutations in GBA gene, which is central to Gaucher disease. Parkinson’s Progression Markers Initiative (PPMI) is sponsored by…
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,…
