Researchers investigating the long-term efficacy and safety of taliglucerase alfa in treatment-naïve adults with Gaucher disease (GD) reported that the drug provided clinical benefits without new or severe side effects. The study, “Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher disease,” was published…
Dr. Roscoe Owen Brady, a long honored pioneer for enzyme therapeutic approaches in treating metabolic disorders including Gaucher disease, has died. Brady, bolstered by his own unlimited devotion and persistance and credited by others for research that now allows patients with Gaucher disease to live longer lives, passed away on June 13…
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…
