Global Genes, a global advocacy nonprofit working for patients and families of rare and genetic diseases, will help hundreds of patient advocates worldwide, including those for Gaucher disease, with travel stipends up to $100,000 so that they can attend this year’s 5th Annual RARE Patient Advocacy Summit. The…
A recent review of substrate reduction therapy for Gaucher disease, by the National Health Institute Doutor Ricardo Jorge, in Portugal, explored how well the strategy performs and identifies areas of treatment improvement for Gaucher and other lysosomal storage disorders. Gaucher disease, caused by the lack of an enzyme called glucocerebrosidase, is typically managed with…
One of the most disabling aspects of Gaucher disease (GD) is skeletal issues that leave patients often experiencing bone pain and impaired mobility. In a recent case report, researchers described a young woman with GD reporting severe ankle pain, her physical examination results, and the treatment course that doctors applied. The report, titled “…
Patients with Gaucher disease (GD) exhibit higher levels of several markers of antioxidant defense compared to healthy controls, a finding that highlights the alterations associated with the disease and the mechanisms triggered to prevent further damage. The study of these alterations, “Oxidative stress parameters of Gaucher disease type I patients,”…
Cerdelga (eliglustat) was recently approved in the U.S. and Europe for the long-term treatment of a subset of adult patients with Gaucher disease type 1 (GD1). Researchers at Sanofi Genzyme analyzed results from several clinical trials with the goal of comparing Cerdelga with Cerezyme (imiglucerase), an enzyme replacement therapy drug. Results…
National Institutes of Health researchers found a molecule that might one day be used as a treatment for Gaucher and Parkinson’s diseases. The research paper, “A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism,” was published…
According to a recent case study and literature review from Yale University School of Medicine, people with Gaucher disease (GD) could be at higher risk for skeletal tumors. The report, “Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population,” was published in the…
Increased interest in the developing field of pharmacological chaperones as a therapy in certain lysosomal conditions such as Gaucher disease prompted a study which, scientists say, confirms the potential of the prodrug concept in pharmacological chaperone therapeutics. An international group of multidisciplinary researchers conducted a study that assessed the chaperone activity when…
Researchers described the case of a patient with Gaucher Disease type 3 (GD3), who developed eye lesions despite long-term enzyme replacement therapy (ERT). In light of such findings, they recommend that thorough ophthalmic assessment be included in the annual examinations of patients with GD3. The case report, “The appearance of newly identified intraocular lesions…
Researchers analyzed the occurrence of Parkinson’s disease (PD) markers in type 1 Gaucher disease (GD) patients, who generally have an increased risk of developing Parkinson’s, and identified a series of markers for PD. The findings, which align with previous research, indicate that Gaucher patients and mutation carriers are an important population for the exploration…
