Enzyme replacement therapy (ERT) with Cerezyme (imiglucerase) in children with Gaucher disease type 3 (GD3) led to marked and quick improvement in key disease manifestations, with benefits lasting for up to five years, a retrospective, worldwide study reported. These and other outcomes seen led the researchers to recommend, based on “clear evidence,”…
Patients with Gaucher disease type 1 (GD1) have a high risk of forming gallstones. Researchers now have connected specific gene variations and other risk factors, such as higher body mass index (BMI) and cholesterol values, to patients with higher occurrence of gallstones. The study “Cholelithiasis in Patients with…
Delaying the start of enzyme replacement therapy (ERT) may lead to worse symptoms and, potentially, permanent damage in patients with Gaucher disease (GD). The study, “Time of initiating enzyme replacement therapy affects immune abnormalities and disease severity in patients with Gaucher disease,” published in PLOS One, underscores the importance of…
Making lysosomes more acidic may be an ingeniously simple, yet efficient, way to prevent the consequences of lysosomal storage disorders such as Gaucher disease. And restoring acidity can be achieved with repurposed drugs that are already in use for other diseases. The discovery by researchers at the University of…
Protalix BioTherapeutics has announced that Fundação Oswaldo Cruz (Fiocruz), an arm of the Brazilian Ministry of Health, has issued a letter of intent to purchase significant quantities of Uplyso (alfataliglicerase) to treat people with Gaucher disease in Brazil. Known as Elelyso (taliglucerase alfa) outside of Latin America, the treatment was first…
New research has found that certain cells in Gaucher disease patients exhibit a specific type of tension called endoplasmic reticulum (ER) stress, which may be linked to the development of the disease. The study, “UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease,” was published in the…
Patients with Gaucher disease type 1 are at an increased risk of gallbladder stones, a case report reports. The condition is often safely resolved with minimally invasive surgery, but authors highlight that Gaucher disease associated with certain symptoms may indicate gallbladder stones, so clinicians need to be aware of the condition. The study, “…
A new case study found an association between Gaucher disease and neuroblastoma, a type of cancer that forms in certain types of nerve tissue.
Protalix BioTherapeutics, a biopharma specializing in the development of recombinant therapeutic proteins, announced that the Brazilian National Health Surveillance Agency, known as ANVISA, has granted regulatory approval for Uplyso (alfataliglicerase) to treat Gaucher disease in children. ANVISA approved Uplyso in March 2013 for long-term enzyme replacement therapy (ERT)…
The enzyme replacement therapy based on taliglucerase alfa has shown a sustained safety profile accompanied by long-term effectiveness in children with Gaucher disease (GD). The study “Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase,” was published in…