Persistent high levels of iron in patients with Gaucher disease who are receiving maintenance therapy are associated with residual Gaucher disease. This finding was reported in the study “Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment” that…
Pain is a common symptom among patients with Gaucher disease (GD). Italian researchers say it’s caused by peripheral nerve cell damage and not only bone damage, as was previously thought. Their study, “Chronic pain in Gaucher disease: skeletal or neuropathic origin?,” appeared in the Orphanet Journal of Rare Diseases.
Researchers have identified three new compounds that can cross the blood-brain barrier and may represent a new therapeutic avenue for types 2 and 3 Gaucher disease — two forms of the disease with brain involvement. Gaucher disease is caused by mutations in the gene that encodes the beta-glucocerebrosidase (GBA) protein. Dysfunctional…
Substrate reduction therapy (SRT) may help manage Gaucher disease symptoms that do not respond to first-line enzyme replacement therapies (ERT), according to a case report featured in the journal Molecular Genetics and Metabolism Report. The current main treatment options for Gaucher disease are ERT and SRT. ERT is based on…
Abnormal behavioral patterns, including increased aggressiveness and anger, can be symptoms of Gaucher disease (GD) type 3 and also markers of disease progression, according to researchers. The study, “Previously unrecognized behavioral phenotype in Gaucher disease type 3,” was published in the journal Neurology Genetics. Patients with Gaucher disease type 3…
Cerdelga (eliglustat) will become the first oral treatment that England’s National Health Service (NHS) makes available to patients with Gaucher disease. At the moment, the only treatment the health service covers is enzyme replacement therapy administrated by intravenous infusion. It will begin making Cerdelga available later this year. A medical advisory…
Cerdelga (eliglustat tartrate) can be effective in treating gastrointestinal lesions in patients with Gaucher disease (GD), according to a clinical case published in BMC Medical Genetics. This finding supports the use of Cerdelga to treat patients who receive standard care with enzyme replacement therapy (ERT) but still present treatment-resistant symptoms.
The National Gaucher Foundation has endorsed a clinical study designed to identify biomarkers of Parkinson’s disease (PD), and to evaluate the connection between this disease and the occurrence of genetic mutations in GBA gene, which is central to Gaucher disease. Parkinson’s Progression Markers Initiative (PPMI) is sponsored by…
Suppressing a protein that promotes the inflammation associated with Gaucher and other lysosomal storage diseases could lead to new treatments for the conditions, researchers say. Scientists from the Cincinnati Children’s Hospital Medical Center and the University of Lübeck in Germany discovered that a protein called complement component 5a (C5a) and…
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…