News

The combination of enzyme replacement therapy (ERT) and Zavesca (miglustat) substrate reduction therapy (SRT) for a limited period improved disease symptoms in two women with Gaucher disease type 1 (GD1), according to a case study. The study, “Combined miglustat and enzyme replacement therapy in two patients with…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

Ambroxol — a chest congestion and cough medicine that’s being investigated for the treatment of Gaucher disease — has several molecular mechanisms in addition to acting as an enhancer of the enzyme that’s lacking in Gaucher patients. These mechanisms might also act to alter the disease course in patients with…

Researchers in Brazil identified a set of signs and symptoms of Gaucher disease to help establish a priority nursing diagnosis for the disease. This allows nurses to distinguish the rare cases of Gaucher from conditions that share some of the same features. A nursing diagnosis is a nurse’s…

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)…