Ambroxol — a chest congestion and cough medicine that’s being investigated for the treatment of Gaucher disease — has several molecular mechanisms in addition to acting as an enhancer of the enzyme that’s lacking in Gaucher patients. These mechanisms might also act to alter the disease course in patients with…
Thalassemia — a condition caused by a lack of hemoglobin in red blood cells — might be present in patients with Gaucher disease, making a diagnosis difficult, a case study suggests. The two conditions may also give rise to similar features, further complicating a diagnostic workup, said researchers from…
A recent survey of people who were tested to see if they carry Gaucher disease-causing mutations in the GBA gene asked if they believe patients should also be informed about the increased risk of Parkinson’s disease (PD) before the screening. Most of those surveyed replied yes, they think people should be…
Lyso-Gb1 (glucosylsphingosine) may be a sensitive marker of disease burden and treatment response in patients with Gaucher disease type 1, argue researchers from the biotechnology company Shire and Zedek Medical Center at the Hebrew University-Hadassah Medical School. Unlike other markers of treatment response, Lyso-Gb1 reflects changes in disease…
Doctors who are not Gaucher disease experts should have straightforward and easy-to-follow diagnosis guidance so patients can be treated earlier, according to a study reporting that it can take years for a patient to learn they have the disorder. The research was based on surveys of patients and Gaucher specialists. Both said…
Poor bone health in people with Gaucher disease is likely driven by processes independent of the condition, researchers at Argentina’s National University of La Plata report. They identified the prime suspects in bone deterioration as increased activity in bone degrading cells and altered immune response. The findings could lead to therapies…
The benefits of newborn screening for lysosomal storage disorders such as Gaucher disease were not directly apparent 15 months after Illinois launched statewide screening. Long-term follow-up is needed to assess the true benefits and risks of the screening, researchers from the Feinberg School of Medicine of Northwestern University…
Although people with Gaucher disease have a higher risk of developing Parkinson’s disease later in life, the link between the two diseases is rarely addressed in a genetic counseling setting. But in implementing new strategies for genetic counseling, questions need to be discussed that are specific to the settings in which…
Regulatory agencies in the U.S. and Europe have joined forces to develop a proposal with the aim to spur innovative approaches in the development of new Gaucher disease treatments. The European Medicines Agency (EMA) and the U.S. Food and Drug Administration (FDA) underscored that the proposal only…
The presence of severe complications of Gaucher disease type 1 (GD1) at the time a patient starts treatment has steadily dropped since the introduction of enzyme replacement therapy with Cerezyme (imiglucerase) in 1991. After analyzing clinical characteristics of…