The effectiveness of ambroxol — a molecule that improves the folding and maturation of abnormal glucocerebrosidase — does not depend only on the type of GBA mutation a Gaucher patient has, a study found. Using primary cells from patients — particularly their blood cells or macrophages — could help determine the…
Enzyme replacement therapy (ERT) can help restore the normal organelle recycling processes that happen in cells, improving energy production in Gaucher and Fabry disease patients, a study has found. The study, “Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and…
G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 means Dravet syndrome. All three designations became official on Oct. 1, 2018, joining some 70,000 other diseases listed in the latest iteration of the International Classification of Disease (ICD). Known…
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…
The U.S. Food and Drug Administration (FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history — how disorders such as spinal muscle atrophy (SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical…
Cascade screening — a systematic analysis performed in a family to identify the risk of any member developing a genetic disease — should be performed in families with a genetic predisposition to conditions such as Gaucher disease, a case report suggests. The study, “Three cases of multi-generational…
The case of a young women with Gaucher disease type 3, which affected her small bowel, calls attention to the possibility, although rare, that certain gastrointestinal (GI) symptoms can be a sign of Gaucher disease, a case report shows.
A computer simulation — examining how some therapies interact with the two most common β-glucocerebrosidase (GBA) mutated forms in Gaucher disease — identified NN-DNJ and ambroxol as the most active treatments for correcting the 3D structure of the GBA protein, and helping it reach its correct location, a study has found.
Chronic anemia that does not respond to iron supplements might be a warning sign of Gaucher disease (GD) in children and could help with early diagnosis, a case report suggests. The report, “Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia,” was published in the International Journal of…
Two new stem cell lines from patients with Gaucher disease have been developed and made available for studies, researchers report. The induced pluripotent stem cell (iPSC) lines — adult cells reprogrammed to a stem cell-like state that can give rise to any tissue in the human body — were…
