News

A 4-year-old boy with Gaucher disease developed enlarged lymph nodes and a serious digestive complication called protein-losing enteropathy (PLE), despite being on enzyme replacement therapy (ERT) since the first weeks of life, according to a recent case report. While his symptoms improved with corticosteroid treatment and dietary changes,…

Sharp Therapeutics is gearing up to ask the U.S. Food and Drug Administration (FDA) for permission to begin testing its Gaucher disease treatment candidate ‘901 in clinical trials. The developer, a preclinical-stage biotechnology company, announced that it’s engaged the contract research organization Rho to help it put together its…

Proteins called cytokines that are involved in regulating immune and inflammatory responses may help explain and track early-onset osteoporosis in women with Gaucher disease, a study reports. Older women are typically most at risk of osteoporosis, a condition wherein bones become weak and are prone to fracture due to…

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…