A 15-month-old boy has become the youngest reported patient with Gaucher disease to develop multiple benign accumulations of Gaucher cells — called a Gaucheroma — after starting on enzyme replacement therapy (ERT), a case study reports. The research, “Very rare condition of multiple Gaucheroma: A…
A €1.4 million grant from the Eurostars-2 program, with funding from others, will support Gain Therapeutics and its partners in developing treatment candidates for Gaucher disease, Parkinson’s, and GM1 gangliosidosis. The grant, worth about $1.57 million, supports ongoing research by Gain and its collaborators Maurizio Molinari,…
Plasma levels of a molecule called galactosylsphingosine are low enough that they do not interfere with the detection of the Gaucher disease biomarker glucosylsphingosine, or Lyso GL-1, a study using a new analytic approach has found. The study, “Galactosylsphingosine does not interfere with the quantitation of…
A new microscopy technique enables visualization of beta-glucocerebrosidase (GBA) given in enzyme replacement therapy (ERT) to people with Gaucher disease. This could help improve treatment efficiency in this patient population, the researchers suggested. The study, “Localization of Active Endogenous and Exogenous GBA by Correlative Light-Electron Microscopy…
Modified versions of a compound already used in Gaucher disease research are more selective and potent blockers of the key beta-glucosidase (GBA) enzyme and can be used to create superior Gaucher models in zebra fish, according to a study. The study, “Functionalized Cyclophellitols Are Selective Glucocerebrosidase…
Adults with Gaucher disease type 1 (GD1) show a high prevalence of irreversible bone lesions, despite reaching treatment goals for reduced levels of blood cells, according to a study. Findings also indicated that low bone formation, bone marrow infiltration, and spleen removal may be implicated in these lesions. The…
High activity of an enzyme called chitotriosidase (ChT) before treatment does not correlate with clinical or biochemical parameters in Gaucher disease, according to new research in Brazilian patients. The findings also revealed a marked reduction in ChT activity with 12 months of treatment. The study, “Chitotriosidase on…
Two approved treatments for Gaucher disease type 1 patients — Cerdelga (eliglustat) and Cerezyme (imiglucerase) — are equally effective as treatments, working increase hemoglobin and platelets levels, and reduce spleen and liver size, according to a small review study. The research, “The Clinical Efficacy of…
Signs such as anemia or enlarged liver and spleen, and characteristics such as family history of Gaucher disease (GD) should lead clinicians to consider a GD diagnosis, according to a new study. The findings also revealed that lack of awareness is a major obstacle for timely diagnosis. The research, “…
A new case report describes a 14-year old boy diagnosed with Gaucher disease (GD) type 3 with retinal detachment in his right eye that worsened rapidly without treatment. The report, “Retinal detachment in a boy with Gaucher disease,” appeared in the International Journal of Ophtalmology. A…