Enzyme replacement therapy with Cerezyme (imiglucerase) shows long-term benefits on the quality of life in young children with Gaucher disease type 1 (GD1), a study published in Molecular Genetics & Genomic Medicine found. GD1, the most common form of the disease, is characterized by an accumulation of glucocerebroside in…
Late diagnosis and treatment of Gaucher’s disease, particularly when there are bone symptoms, can worsen a patient’s health and quality of life, a case study shows. It involved a Turkish woman whom doctors mistakenly diagnosed with brittle bone disease. The report, “Actual reason for bone fractures in the…
Enzyme replacement therapy, either alone or combined with a bone loss prevention treatment, helps patients with Gaucher disease type 3 avoid bone thinning, a long-term study shows. The treatment was effective in both adults and children. It was the first study to show that bone loss prevention treatments known as…
Arimoclomol, an investigative therapy being developed by Orphazyme, increases glucocerebrosidase activity in cells from Gaucher patients, including those with neuropathic forms of the disease, a new study says. Glucocerebrosidase is a lysosomal enzyme that is often deficient in these patients. The proposed therapy, which boosts production of a family…
Using non-invasive magnetic resonance elastography (MRE) to evaluate liver stiffness can help monitor disease severity and progression in Gaucher disease type 1 (GD1) patients. That finding was reported in the study “Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1…
Reducing infusion time of Vpriv (velaglucerase alfa) enzyme replacement therapy (ERT) in patients with type 1 Gaucher disease from one hour to 10 minutes may be possible using a time-reducing protocol. Developed by a team led by Ari Zimran, MD, head of the Gaucher Clinic at the Shaare Zedek…
Results from the ongoing Gaucher Outcome Survey (GOS) continue to provide new insights into Gaucher disease (GD) characteristics, as well as improved assessments of treatment patterns and long-term global outcomes. The GOS (NCT03291223) is an international, observational disease registry promoted by Shire, a biotech focused on rare diseases,…
Phase 3 clinical data demonstrated that Abcertin, an investigational formulation of imiglucerase being developed by ISU Abxis, is a safe and effective therapeutic option for the treatment of patients with type 1 Gaucher disease. Gaucher disease is a genetic disorder that is characterized by low levels of the…
The case of an infant with type 2 Gaucher disease who clearly inherited one disease-causing mutation from his father but whose mother did not show evidence of the second defective gene was detailed by a research team at the National Human Genome Research Institute (NHGRI). Genetic mutations associated with…
A major challenge of diagnosing Gaucher disease is that its neurological manifestations can appear very early in life or much later, according to a National Institutes of Health review of the rare condition. Also making a diagnosis difficult is the broad range of symptoms the hereditary disorder can display. In some cases its…