A first patient has been treated in a Phase 1/2 trial of AVR-RD-02, Avrobio‘s investigational gene therapy for Gaucher disease type 1, the company announced. “The first patient dosed is an important milestone for the Gaucher disease community and our AVR-RD-02 program,” Geoff MacKay, president and CEO of Avrobio, said…
A case report about two sisters in Brazil with Gaucher type 1 disease (GD1) and severe bone disease represents a new genetic profile, researchers say. Although the uncommon genetic alterations have been reported previously, researchers suggest these are the first known GD patients with this combination of two mutations.
Myelodysplastic syndrome (MDS) is rare in people with Gaucher disease type 1 (GD1) but because it is difficult to detect it may lead to under-diagnosis in this patient population, a new study suggests. Titled, “Gaucher disease, myelodysplastic syndrome and ICUS,” the study was published in the…
A new fly model of Gaucher disease may more fully summarize and present the molecular complexities of the disease in humans than other animal models do, researchers say. This recapitulated model may allow scientists to better understand disease mechanisms and design new therapeutic approaches. The fly model was described…
Mobile phone-based monitoring may allow for better measurement of how Gaucher disease affects the lives of those who have it, a new pilot study reports. The investigators suggest that such monitoring also might allow healthcare providers to improve personalized care, and could be useful in research. Titled “…
A new algorithm that examines neurological and oculomotor signs may make it much easier to diagnose certain “often overlooked” rare neurological conditions, including Gaucher disease type 3 (GD3), the research team that developed it said. The algorithm is described in the study “An algorithm as a diagnostic tool…
Stem cell therapy given via intravenous injection eased symptoms and prolonged survival in a mouse model of Gaucher disease with neuronal symptoms, a proof-of-concept study reports. The study, “Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic…
The case of a Gaucher disease patient who received a lung transplant to treat pulmonary hypertension calls into question assumptions about how Gaucher affects blood pressure in the lungs, researchers say. Titled “Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in…
Pentosan polysulfate (PPS), an approved medicine, may be a potential add-on treatment for Gaucher disease, helping reduce inflammation and bone alterations in cellular models of the condition, a study found. The treatment was also effective in cell models of Fabry disease, another lysosomal storage disorder. The study, “…
A new mouse model of Gaucher disease type 3 may be more useful for studies of disease biology and preliminary tests of possible treatments than those now in use. The study, “Viral delivery of a microRNA to Gba to the mouse central nervous system models neuronopathic Gaucher…
