The Icahn School of Medicine at Mount Sinai is repurposing pentosan polysulfate sodium — an anti-inflammatory medicine approved as Elmiron for bladder pain — for the treatment of lysosomal storage disorders, possibly to include Gaucher disease. The medical school in New York has signed two licensing agreements with Australia-based Paradigm…
Long before Cerezyme (imiglucerase) and Cerdelga (eliglustat) were approved as Gaucher type 1 treatments, before a computer simulation was found to identify optimal treatments, and before the development of new stem cell lines for study, there was Roscoe Brady, MD. A scientist…
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…
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.
