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…
When it comes to treating Gaucher disease, oral medication is associated with a better quality of life, compared with infusion therapy, an interview-based study suggests. Led by researchers at the Royal Free Hospital and University College Medical School in London, the study, “A health…
Liver fibrosis is a common condition in patients with Gaucher disease type 1 (GD1) and can be predicted by factors such as disease severity and spleen removal, according to new research from Italy. The findings also indicate that stable enzyme replacement therapy (ERT) is associated with less fibrosis.
Delivery of a systemic gene therapy restored the production of glucocerebrosidase — the deficient enzyme in Gaucher disease — in several organs, eased symptoms, and prolonged survival in mouse models of Gaucher disease, a recent study shows. The study, “Delivery of Gba Gene Using AAV9 Vector Therapy as…
Newly discovered data on the activity of glucocerebrosidase after treatment with Sanofi Genzyme’s Cerezyme (imiglucerase) — an enzyme replacement therapy for Gaucher disease — supports current guidelines for its administration every two weeks, according to researchers. Their study, “Intra‑monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher…
