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Treatment with Sanofi’s enzyme replacement therapy (ERT) Cerezyme (imiglucerase) during pregnancy was associated with favorable outcomes for women with type 1 Gaucher disease and their babies, according to data from an international patient registry. Among more than 100 pregnancies, most resulted in live births, and most infants…

Transient elastography, a noninvasive test that uses ultrasound to detect liver stiffness and fat, may be used to assess tissue scarring and excess fat in the liver of adults with type 1 Gaucher disease, a study showed. More severe liver scarring, or fibrosis, was significantly associated with higher blood…

Gaucher disease may alter how macrophages, key immune cells involved in the disease, produce energy and process fats, according to a new study using computational modeling. Based on their model, researchers identified a few genes that may help regulate these metabolic changes in Gaucher cells. The scientists called for…

Avigbagene parvec, a one-time gene therapy being developed by Spur Therapeutics for Gaucher disease type 1, helped four of six adults in a Phase 1/2 study remain off their standard treatment for up to about two years, trial data show. While stopping treatment typically leads to a rapid…

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…