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The U.S. Food and Drug Administration (FDA) has granted breakthrough therapy status to Sanofi‘s experimental oral medication for Gaucher disease type 3, venglustat, which has shown potential in a clinical trial for improving measures of neurological function in people with this form of the genetic disorder. While there…

Treatment with VPRIV (velaglucerase alfa) was generally safe and showed benefits — including stable blood levels — among children and adolescents with Gaucher disease type 1, a new review of published studies has found. Evidence also suggests the approved enzyme replacement therapy (ERT) may help manage nonneurological…

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…