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Sanofi‘s experimental oral therapy venglustat was better than its enzyme replacement therapy (ERT) Cerezyme (imiglucerase) at easing neurological symptoms in people with Gaucher disease type 3. That’s according to new data from the LEAP2MONO Phase 3 clinical trial (NCT05222906), presented as late-breaking research last week…

Researchers have reported the case of a young man with type 1 Gaucher disease caused by a rare mutation in the GBA1 gene, which may help explain how this mutation affects the disease and response to treatment. The mutation, known as p.Thr82Ile, was found in both copies of the man’s GBA1 gene,…

The three main types of Gaucher disease differ not only in symptoms but also in the biological processes driving the disease at a molecular level, according to a study. Type 1 Gaucher disease is associated with changes in immune regulation, tissue structure, and cellular stress responses, while types 2…

Note: This story was updated Jan. 20, 2026, to clarify that the label update also removed age restrictions, allowing Cerezyme to be used from birth. The U.S. Food and Drug Administration (FDA) has expanded the approval of Cerezyme (imiglucerase) to include the treatment of non-neurological symptoms in children…

Expectant parents can now screen for a broader range of inherited conditions, including Gaucher disease, using only a maternal blood sample and Natera‘s updated Fetal Focus test. The update adds 16 new genes to the panel, enabling the screening of a total of 21 genetic diseases early in…

Switching patients who are doing well on their current Gaucher disease treatment to a different medication comes with risks, and it may be “inappropriate” for health insurers to require a change to cut costs, according to a study from Quebec. Gaucher disease patients who switched their enzyme…

Bone manifestations — including pain, structural changes, and reduced bone density — are common among people with Gaucher disease in Tunisia, according to a study. Although bone disease affected nearly two-thirds of patients, it was rarely the main reason treatment was started. Only slightly more than half of those…

Available disease-modifying therapies (DMTs) for Gaucher disease can decrease the levels of lyso-Gb1, a biomarker of disease burden, but levels remain significantly above the normal range in treated patients, a study found. “We speculate that the persistently increased lyso-Gb1 levels may have been driven by underlying mechanisms, such as…

Coexistent genetic conditions may contribute to unusual symptoms in people with Gaucher disease, potentially affecting disease progression and management, a study suggested. Researchers found that 17 Gaucher patients with atypical symptoms all had other genetic conditions, showing that understanding genetic factors is important for developing personalized treatments. “This study reframes…

Seven previously unreported mutations linked to type 1 Gaucher disease were identified in a study analyzing the genetic code of dozens of people with the condition in Egypt. “All patients carrying these novel variants exhibited reduced enzyme levels and clinical symptoms characteristic of type 1 [Gaucher disease], without neurological…