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…
A man with type 1 Gaucher disease benefited after switching treatments to Zavesca (miglustat) from Cerezyme (imiglucerase), according to a case study. The report, “Successful Switch From Enzyme Replacement Therapy To Miglustat In An Adult Patient With Type 1 Gaucher Disease: A Case Report,” was published in the Journal…
Magnetic resonance imaging (MRI) can be a resourceful tool to identify bone lesions in Gaucher disease (GD) patients, according to a new study. The research paper, “The Utility Of Magnetic Resonance Imaging For Bone Involvement In Gaucher Disease. Assessing More Than Bone Crises,” was published in the journal…
Imiglucerase (Cerezyme) has an excellent track record in treating type 1 Gaucher disease, according to a recent review that analyzed 26 years worth of publications on the topic. The study, “Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy,” was published in…
Researchers from New York University School of Medicine recently found that treating a mouse model of Gaucher disease with a key part of the protein progranulin led to marked improvement. The finding may lead to new treatments for Gaucher and other lysosomal storage diseases. The study, “Progranulin Recruits HSP70 to β-Glucocerebrosidase…
A Swedish group of Gaucher patients showed clinical features never previously reported in this disease — a rapid and repetitive dystonia-like hyperkinetic movement disorder that may be unique to this group of people, researchers reported. The study, “Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients,” was published in…
An artificial version of the protein progranulin could reverse most cellular defects found in Gaucher disease, according to study led by researchers at NYU Langone Medical Center. Gaucher disease (GD), a rare condition characterized by the inability of cells to break down fats, presents many symptoms including enlarged spleen and liver, blood disorders, joint…
A team of researchers from Peking Union Medical College Hospital in Beijing, China reported the rare case of patient diagnosed with Gaucher Disease who developed mesenteric lymphadenopathy, or an inflammation of the lymph nodes in the membrane that connects the bowel to the abdominal wall.
Understanding the progressive changes associated with Gaucher disease (GD) may provide useful information to develop more effective therapies. In recent research, scientists at Cincinnati Children’s Hospital Medical Center used mice to follow the temporal evolution of neurobehavioral dysfunctions and brain pathology triggered by GD. The study “Progression of Behavioral and…
