News

Researchers have found two new mutations associated with Gaucher disease type 1 (GD1) in four Indian adults. The researchers also reported, for the first time, the estimated carrier frequency of the most common Gaucher-causative mutation in the general Indian population. The study, “Biochemical and molecular characterization…

A patient with type 1 Gaucher disease (GD1) was diagnosed with corticobasal syndrome, a rare condition that causes some of the same symptoms seen in Parkinson’s disease, researchers report. The study, “Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of…

Three pediatric cases of Gaucher disease (GD) with unprecedented brain magnetic resonance imaging (MRI) changes mainly affecting the thalamus and/or dentate nucleus were recently described in a case report. The thalamus is a brain structure responsible for relaying information from sensory receptors to proper brain regions where it can…

With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Credit and affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate,…

A case report on three family members with Gaucher disease (GD) underlines the importance of early diagnosis and treatment with enzyme replacement therapy (ERT) to prevent disease progression and improve quality of life. Researchers…

Motor and sensory-related brain networks do not work efficiently in children with type 1 Gaucher disease (GD), but this disrupted performance appears to remain stable over time, researchers report. Their findings were published in the study, “Altered brain functional network in children with type 1 Gaucher…

Sanofi Genzyme has partnered with PerkinElmer Genomics to launch a free genetic testing program called The Lantern Project. The initiative is directed at patients in the United States who have, or are suspected of having, specific types of lysosomal storage disorders, including Gaucher disease. Those…

Switching patients with Gaucher disease type 1 (GD1) from enzyme replacement therapy (ERT) to Cerdelga (eliglustat), an oral substrate reduction therapy (SRT), may strongly reduce treatment-associated costs, a recent study suggests. The study, “Budget Impact Analysis of Eliglustat for the Treatment of Gaucher Disease Type 1…

Long-term treatment with Cerdelga (eliglustat), a substrate reduction therapy for Gaucher disease type 1, is safe and continuously improves blood parameters, decreases spleen and liver volumes, and reduces markers of disease activity, results from an eight-year study show. The study, “Outcomes after 8 Years…

Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…