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…
A new case report describes an infant who presented with two rare blood cell diseases simultaneously: Gaucher disease (GD) and severe congenital neutropenia (SCN). This is the first reported case of both diseases occurring in a patient at the same time. The study, “Coexistence of Gaucher Disease…
A Canadian study shows that it is feasible to screen high risk patients — those with an enlarged spleen, low platelet levels, or both — for Gaucher disease in general hematology clinics. The study, “Gaucher disease screening at a general adult hematology tertiary care centre: A prospective…
The small molecule arimoclomol — which is already in Phase 2/3 clinical testing — improves the folding and maturation of abnormal glucocerebrosidase across multiple cell models of Gaucher disease, including neuronopathic ones, which have no approved treatments available, a study shows. The study, “The heat shock protein amplifier…
