News

Researchers conducted an enzyme replacement therapy study with a group of Gaucher disease patients and found just a small fraction of patients developed anti-drug antibodies. And, no correlation between antibody development and impaired clinical responses was found. The study, “Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease,” was published…

Researchers at the Academic Medical Center Amsterdam in the Netherlands conducted a study with the aim of providing insight on the pathophysiological implications of iron accumulation in patients with Gaucher disease (GD). The study, “Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications,” published in…

Researchers at Israel’s Rambam Health Care Campus and Pfizer conducted a literature review with the objective of providing insight into the measurement, management, and practice guidelines of fatigue in Gaucher disease. The results of the analysis and survey suggest a need for additional investigation of fatigue in patients, the establishment…

A multi-disciplinary team of researchers from several Swedish institutions evaluated the involvement of mutations in glucocerebrosidase (GBA), in the development of Gaucher disease in relationship to Parkinson’s Disease cases. Three genetic variants were associated with PD in the study population, suggesting that GBA genetic mutations may be risk factors and play a…

A new study from Japan shows promise for enzyme replacement therapy with velaglucerase alfa as a treatment for Gaucher disease. The report, “A multicenter, open-label extension study of velaglucerase alfa in Japanese patients with Gaucher disease: Results after a cumulative treatment period of 24 months,” appeared in the medical journal…

A team of researchers led by the University of Victoria, British Columbia, have recently identified two novel mutation sites characteristic of Gaucher Disease Type 1 (GD1). The findings, “Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous…

The biochemical responses in patients with Gaucher disease type I (GD1) treated with some selected therapeutic options have been compared in a study, “Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients,” published in Orphanet J Rare Dis. A…

The diagnostic and therapeutic approaches in children living in Iraq with Gaucher disease (GD) were recently evaluated in a study, “Gaucher disease in Iraqi children (Clinical, diagnostic & therapeutic aspects),” published in the Pak J Med Sci. Gaucher disease is caused by a deficient enzyme…

A team of researchers recently discussed the recommended uses of the drug eliglustat in American adults suffering from Gaucher disease type 1 (GD1). These findings, “Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States,” were published…

An initial study from Japan demonstrated that oral ambroxol may help treat forms of Gaucher disease characterized by neurological symptoms. The study, “Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study,“ was published in the journal, Annals of Clinical and Translational Neurology. Ambroxol is used to treat respiratory…