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…
A new case report describes a 14-year old boy diagnosed with Gaucher disease (GD) type 3 with retinal detachment in his right eye that worsened rapidly without treatment. The report, “Retinal detachment in a boy with Gaucher disease,” appeared in the International Journal of Ophtalmology. A…
AVROBIO is advancing its gene therapy for Gaucher disease, AVR-RD-02, into a Phase 1/2 clinical trial after Health Canada raised no objections to its clinical trial application, the company announced. The trial is expected in 2019. “We are excited to have achieved this regulatory milestone as a step forward in our…
Generating specific bone cells derived from Gaucher patients may be used to monitor the progression of bone disease and predict treatment response in Gaucher disease patients, according to researchers. Their study, “Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features…
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…
