News

Thalassemia — a condition caused by a lack of hemoglobin in red blood cells — might be present in patients with Gaucher disease, making a diagnosis difficult, a case study suggests. The two conditions may also give rise to similar features, further complicating a diagnostic workup, said researchers from…

Reducing infusion time of Vpriv (velaglucerase alfa) enzyme replacement therapy (ERT) in patients with type 1 Gaucher disease from one hour to 10 minutes may be possible using a time-reducing protocol. Developed by a team led by Ari Zimran, MD, head of the Gaucher Clinic at the Shaare Zedek…

Treatment with Cerdelga (eliglustat) leads to clinically meaningful long-term improvements in hemoglobin and platelet levels in patients with Gaucher disease type 1 (GD1), data from long-term Phase 2 and Phase 3 ENGAGE trials show. The results were recently presented at the 59th American Society of Hematology (ASH)…

Results from the ongoing Gaucher Outcome Survey (GOS) continue to provide new insights into Gaucher disease (GD) characteristics, as well as improved assessments of treatment patterns and long-term global outcomes. The GOS (NCT03291223) is an international, observational disease registry promoted by Shire, a biotech focused on rare diseases,…

Phase 3 clinical data demonstrated that Abcertin, an investigational formulation of imiglucerase being developed by ISU Abxis, is a safe and effective therapeutic option for the treatment of patients with type 1 Gaucher disease. Gaucher disease is a genetic disorder that is characterized by low levels of the…

The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…

A  new study by researchers at Houston’s Baylor College of Medicine has linked a group of genes associated with lysosomal storage disorders, such as Gaucher disease, to the onset and progression of Parkinson’s disease. The study, “Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease,” appeared…

JScreen, a nonprofit group affiliated with Atlanta’s Emory University, spent October — Gaucher Disease Awareness Month — screening Jewish students for Gaucher and other genetic conditions at U.S. college campuses with high Jewish populations. It partnered with the National Gaucher Foundation to run the tests run for 200-plus conditions,…

The case of an infant with type 2 Gaucher disease who clearly inherited one disease-causing mutation from his father but whose mother did not show evidence of the second defective gene was detailed by a research team at the National Human Genome Research Institute (NHGRI). Genetic mutations associated with…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…