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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…

Measuring the amount of glucosylsphingosine, also called lyso-Gb1, a key marker used to help diagnose Gaucher disease, may aid doctors in deciding when someone with Gaucher disease type 1 should begin treatment, a new study suggests. Additionally, a certain level of lyso-GL1 may help distinguish between patients who are…

VPRIV (velaglucerase alfa), an approved enzyme replacement therapy (ERT) for Gaucher disease, appears to be safe and effective in children younger than 4 — an age group not included in the clinical trials that supported the treatment’s approval. That’s according to a new U.S. real-world study that…

Elelyso (taliglucerase alfa) provides long-term clinical benefits for people with type 1 Gaucher disease, with a favorable safety profile, according to real-world data from a 10-year study in Albania. The treatment was effective in both patients starting therapy for the first time and…