A young boy with Gaucher disease type 1 and hearing loss improved his hearing after receiving cochlear implants in both ears. A cochlear implant is an electronic medical device that does the work of damaged parts of the inner ear (cochlea) to provide sound signals to the brain. Doctors report…
The early diagnosis of children with Gaucher disease eligible for enzyme replacement therapy (ERT) helps decrease the incidence of severe complications and allows patients to have improved development, according to a new study from Spain. Researchers say that in Spain, efforts toward early diagnosis have decreased the mean age at diagnosis…
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…
Combining oral Zavesca (miglustat) with intravenous enzyme replacement therapy (ERT) may prevent neurological problems in patients with neuronopathic Gaucher disease, a case study suggests. The research, “Combination Therapy In A Patient With Chronic Neuronopathic Gaucher Disease: A Case Report,” was published in the Journal of Medical Case…
A man with type 1 Gaucher disease benefited after switching treatments to Zavesca (miglustat) from Cerezyme (imiglucerase), according to a case study. The report, “Successful Switch From Enzyme Replacement Therapy To Miglustat In An Adult Patient With Type 1 Gaucher Disease: A Case Report,” was published in the Journal…
Magnetic resonance imaging (MRI) can be a resourceful tool to identify bone lesions in Gaucher disease (GD) patients, according to a new study. The research paper, “The Utility Of Magnetic Resonance Imaging For Bone Involvement In Gaucher Disease. Assessing More Than Bone Crises,” was published in the journal…
Understanding the progressive changes associated with Gaucher disease (GD) may provide useful information to develop more effective therapies. In recent research, scientists at Cincinnati Children’s Hospital Medical Center used mice to follow the temporal evolution of neurobehavioral dysfunctions and brain pathology triggered by GD. The study “Progression of Behavioral and…
Patients with type 1 Gaucher disease being treated with VPRIV (velaglucerase alfa) can safely transition to Cerdelga (eliglustat) or Cerezyme (imiglucerase) and maintain clinical stability, according to a new study that draws on data from the ENCORE trial. The study, “Stability Is Maintained In Adults With Gaucher Disease Type 1 Switched From…
