Dantrolene could be a new therapeutic agent to improve neurological function and disease symptoms in neuropathic Gaucher disease (nGD), according to a collaborative research study developed on a mice model and led by Cincinnati Children’s Hospital Medical Center. The study, “Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in…
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…
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…