News

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Elelyso (taliglucerase alfa) is safe for use by breastfeeding women with Gaucher disease, not representing a risk to the child, a case report shows. Researchers recommend this treatment can be given to women who are breastfeeding an infant, along with calcium supplements. Their letter detailing the case report, “…

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…