News

Patients with Gaucher disease (GD) frequently develop bone disease, but the mechanisms underlying bone damage remain unknown. New research points to developmental defects and impaired secretion in the cells responsible for bone formation, called osteoblasts, in all three clinical subtypes of the disease. Particularly, researchers identified a key signaling pathway,…

Using 26 patients gleaned from an international Gaucher disease (GD) registry, researchers have identified common characteristics of Gaucher disease type 3. The long-term follow-up of these patients should help identify treatment outcomes and better understand the clinical manifestations of GD type 3. The study “Characteristics of 26 patients with type…

Abnormal iron metabolism is associated with excess ferritin in the blood of Gaucher disease (GD) patients, new research from France suggests. The study, “Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease,” appeared in Haematologica, the journal of the European Hematology Association. Gaucher disease is an inherited disorder…

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…