Much like people with type 1 Gaucher disease (GD), patients with type 3 may be at greater risk of developing features of Parkinson’s disease as they get older, a case series suggests. The study, “Parkinsonism in patients with neuronopathic (type 3) Gaucher disease: A…
The effectiveness of ambroxol — a molecule that improves the folding and maturation of abnormal glucocerebrosidase — does not depend only on the type of GBA mutation a Gaucher patient has, a study found. Using primary cells from patients — particularly their blood cells or macrophages — could help determine the…
The small molecule arimoclomol — which is already in Phase 2/3 clinical testing — improves the folding and maturation of abnormal glucocerebrosidase across multiple cell models of Gaucher disease, including neuronopathic ones, which have no approved treatments available, a study shows. The study, “The heat shock protein amplifier…
Long-term treatment with Cerdelga (eliglustat), a substrate reduction therapy for Gaucher disease type 1, is safe and continuously improves blood parameters, decreases spleen and liver volumes, and reduces markers of disease activity, results from an eight-year study show. The study, “Outcomes after 8 Years…
A Lysosomal Storage Disease Research Program at Massachusetts General Hospital is conducting a survey as part of a study to investigate how those patients perceive their treatment. The survey asks for patients’ opinions on enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) and is anonymous. Titled, “Factors influencing…
The Parkinson’s Progression Markers Initiative (PPMI) is recruiting people with Gaucher disease for a new study in Parkinson’s disease because mutations in the GBA gene may cause both diseases. Both the National Gaucher Foundation and the Michael J. Fox Foundation for Parkinson’s Research (MJFF) support the…
JScreen, a nonprofit group affiliated with Atlanta’s Emory University, spent October — Gaucher Disease Awareness Month — screening Jewish students for Gaucher and other genetic conditions at U.S. college campuses with high Jewish populations. It partnered with the National Gaucher Foundation to run the tests run for 200-plus conditions,…
Baebis recently announced that Seeker, the company’s novel newborn screening laboratory platform designed to measure the activity of lysosomal enzymes from newborn dried blood specimens, has been granted a CE Mark and is now available in Europe and in all countries that recognize CE Mark. Reduced activity of lysosomal…
Sanofi Genzyme established the Chart Your Own Course scholarship program back in 2013 to help students with lysosomal storage disorders pursue their dreams. Judges will select the 15 winners of this year’s fifth annual installment of the competition soon, according to a press release. And applications for 2018 will be…
Project HOPE has named UnitedHealth Group and the Gaucher Initiative in Egypt the recipients of its 2017 Global Health Awards. The awards, handed out during the nonprofit organization’s June 13 annual gala at New York’s Pierre Hotel, recognize two groups: the employees of UnitedHealth Group who for more than 10…