Liver fibrosis is a common condition in patients with Gaucher disease type 1 (GD1) and can be predicted by factors such as disease severity and spleen removal, according to new research from Italy. The findings also indicate that stable enzyme replacement therapy (ERT) is associated with less fibrosis.
Shortening the duration of VPRIV (velaglucerase alfa) infusions from 60 to 10 minutes does not affect the safety or effectiveness of the enzyme replacement therapy in patients with Gaucher disease type 1, a study reports. The study, “Rapid intravenous infusion of velaglucerase‐alfa in adults with type 1 Gaucher…
Patients with Gaucher disease type 1 (GD1) may exhibit neurological symptoms at a young age, requiring the use of genetic testing for diagnosing the specific disease type and developing a treatment plan, researchers advise in a recent study. The study, “Are There Neurological Symptoms in Type…
A new study reported the incidence rates of Gaucher disease and three other lysosomal storage disorders in the U.S. state of Missouri after four years of newborn screening. The results for Gaucher disease matched those from previous pilot studies, researchers said. The study, “Incidence of…
Three new mutations in three of four babies with Gaucher disease type 2 were reported in a Turkish study, further illustrating variability of this disease — even in Gaucher patients with the same subtype, the investigators said. The research, “Four Gaucher disease type II patients with three…
Centogene and Orphazyme will collaborate in a Phase 2 clinical trial of arimoclomol, an experimental therapy for Gaucher disease patients with neuronal symptoms. Orphazyme’s arimoclomol boosts the production of a family of proteins involved in stress response known as heat-shock proteins (HSPs). Specifically, arimoclomol prolongs the activated form…
New Zealand’s Pharmaceutical Management Agency (PHARMAC) is requesting feedback on a proposed change in the enzyme replacement therapy (ERT) available for Gaucher disease types 1 and 3 under the country’s public health plan. The change involves moving to Elelyso (taliglucerase alfa) as the publicly funded ERT for these…
Testing dried blood spots is an easy, inexpensive, and effective way for the early diagnosis of Gaucher disease (GD) types 2 and 3 in high-risk patients, according to researchers from Japan. The research, “High-risk screening for Gaucher disease in patients with neurological symptoms,” appeared in the…
Sanofi Genzyme is launching a Phase 3 clinical trial testing Cerdelga (eliglustat) with or without Cerezyme (imiglucerase) in children and adolescents with Gaucher disease (GD) types 1 and 3. The multicenter, open-label ELIKIDS study (NCT03485677) will test the safety and effectiveness of Cerdelga, either alone or in combination…
An experimental, non-invasive stem cell-based therapy led to improved motor function, prolonged lifespan, and reduced neurodegeneration in a mouse model of neuronopathic Gaucher disease (GD), a study shows. The study, “Evaluation of a novel, non-invasive iPSC based cell therapy for neuronopathic Gaucher disease,” was recently presented…
