The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to Prevail Therapeutics‘ investigational therapy PR001 for the treatment of Gaucher disease. In addition, the regulatory agency granted this potential gene therapy rare pediatric disease designation specifically for treating neuronopathic Gaucher, which…
The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…
Thermo Fisher Scientific said it has developed a new test that will allow reproductive health investigators to screen 420 genes for markers of several disorders, including Gaucher disease. This new approach combines several stand-alone tests into a single assay. The Human Genome Project has estimated that humans…
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
The International Gaucher Alliance (IGA), which includes members from 54 countries, has announced a partnership with the London-based data consulting company Kantar to manage its new patient registry for neuronopathic Gaucher disease, characterized by problems that affect the central nervous system. Tanya Collin-Histed,…
An in-depth characterization of a mouse model of Gaucher disease shows that it effectively mimics many of the visceral and neurological aspects of the disorder. Because of this, these mice may be of great value as tools in preclinical efforts to develop new treatments for Gaucher disease, the researchers…
A newly identified mutation in a region of the GBA gene that lacks  information necessary to make the resulting beta-glucocerebrosidase (GCase) protein was found in a woman with Gaucher disease (GD) type 1. That condition is described in the case report, “A novel mutation deep within intron 7 of…
Gene therapy targeting nerve cells restored the production of beta-glucocerebrosidase (GCase) — the defective enzyme in Gaucher disease — in a mouse model of the disorder, preventing neurodegeneration and prolonging survival, a recent study shows. The study, “Systemic AAV9 gene therapy using the synapsin I promoter…
Lung manifestations are frequent among children with Gaucher disease, with recurrent chest wheezing, greater disease severity, and low platelet counts among the risk factors for developing such complications, an Egyptian study reports. To enable early detection, the researchers recommend careful monitoring — even in the absence of clinical…
White spots in the field of vision, called vitreous opacities or floaters, may be associated with worse neurological symptoms in people with Gaucher disease type 3, according to a small study that recommends comprehensive eye examinations for these patients. The study, “White vitreous opacities in five…
