Bone disorders in Gaucher disease patients need to be specially considered, suggests a study published in the Journal of Bone and Mineral Research. This can help with early diagnosis and possible treatment of the disease with therapies like enzyme replacement therapy (ERT).
Great effort should be made to improve quality of life, reduce fatigue and encourage normal participation in school and work activities in people with Gaucher disease. These are some of the goals determined by a group of international experts as part of a new set of goals that they developed.
Small molecule chaperone therapies may play an increasingly important role in the treatment of lysosomal storage disorders such as Gaucher disease, according to a review published in the journal Neural Regeneration Research.
The drug compound lucerastat is well-tolerated overall and does not seem to cause any serious adverse side effects according to a study conducted by scientists at Actelion Pharmaceuticals Ltd.
A new case study found an association between Gaucher disease and neuroblastoma, a type of cancer that forms in certain types of nerve tissue.
A team of researchers from Peking Union Medical College Hospital in Beijing, China reported the rare case of patient diagnosed with Gaucher Disease who developed mesenteric lymphadenopathy, or an inflammation of the lymph nodes in the membrane that connects the bowel to the abdominal wall.
Researchers in the U.S. identified a novel small molecule that is able to effectively reduce the manifestation of Gaucher Disease in a mouse model of the condition. According to the researchers, the molecule called Genz-682452 “holds promise as a potential therapeutic approach for patients with type-3 [Gaucher Disease]”
Researchers from Cincinnati Children’s Hospital Medical Center in Ohio described in detail the brain and behavioral abnormalities of a mouse model of chronic neuronopathic Gaucher disease. This information is invaluable and can be used for experimental designs to evaluate novel therapies for the disease in the future.
Levels of a protein called progranulin (PGRN) are significantly lower in the blood of Gaucher disease (GD) patients compared to the general public according to a study conducted by a team of international researchers and led by Dr. Chuan-ju Liu of New York University School of Medicine.