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An experimental treatment that uses messenger RNA (mRNA) to help the body produce the missing enzyme in Gaucher disease reduced a biomarker of disease burden in a mouse model, with longer-lasting effects and fewer side effects than current options. JCXH-301, which was packaged inside tiny spherical particles, was well tolerated…

High levels of uric acid may be a biomarker of disease severity in people with type 1 Gaucher disease, the most common form of the disorder, according to a new study. Researchers found that patients with more severe disease had significantly higher levels of uric acid in their blood…

Abcertin, a newly developed form of imiglucerase, was found to be equivalent to the approved enzyme replacement therapy (ERT) Cerezyme in a Phase 1 study involving healthy adults. The two medications, which contain the same active ingredient, were found to have similar pharmacological properties and safety profiles, suggesting Abcertin…

The time from symptom onset to receiving a diagnosis of Gaucher disease has significantly decreased over the last decades, from a median of 5.4 years before 2000 to less than one year after 2020, a study in France has found. Still, researchers noted that, while most patients received standard…

New Jersey’s newborn screening (NBS) program for Gaucher disease has proven itself effective at identifying many newborns with the condition, allowing for early treatment in some cases, an assessment of the program shows. Still, a high rate of false positives — babies who test positive on screening, but aren’t…

Researchers identified six previously unknown mutations in the GBA1 gene linked to Gaucher disease, according to a case series report. All clinical signs and symptoms associated with these new mutations were consistent with a diagnosis of Gaucher disease type 1, the most common type of the condition, characterized by…

Casma Therapeutics has selected its first experimental therapy candidate, dubbed CSM-101, which will be developed to treat Gaucher’s disease patients who have Parkinson’s disease. The company is planning to submit an investigational new drug application to the U.S. Food and Drug Administration (FDA) in 2026 asking for permission…

FLT201, a gene therapy for Gaucher disease type 1 currently in clinical testing, led to sustained increases in glucocerebrosidase (GCase) enzyme activity and reductions in fat molecules in animal models, indicating that it works as designed. The gene therapy provides instructions for the production of an optimized version…

Treatment with the experimental gene therapy FLT201 led to sustained clinical benefits that lasted up to 21 months for people with Gaucher disease type 1, according to new clinical trial data. Spur Therapeutics, the therapy’s developer, presented the findings at the 28th annual meeting of the…

Measuring levels of glucosylsphingosine (lyso-Gb1), a diagnostic biomarker of Gaucher disease, in children confirmed by newborn screening programs to have the disease may aid a decision about when to start enzyme replacement therapy (ERT). That’s according to a study in Italy that measured lyso-Gb1 levels monthly in three…