A 31-year-old woman with type 1 Gaucher disease (GD) experienced worsening symptoms and rising disease activity markers after switching from long-term enzyme replacement therapy (ERT) to Cerdelga (eliglustat), according to a recent case report. The woman — who was obese and had her spleen surgically removed years…
In Gaucher disease, the toxic buildup of a fatty molecule called glucosylsphingosine (lyso-Gb1) leads to issues with how nerve cells generate energy and other cellular problems, according to a new study. Lyso-Gb1 is a biomarker of disease burden and response to treatment. The findings help to understand how the…
Treatment with corticosteroids and hydroxychloroquine to dampen inflammation helped ease serious lung problems in an infant with type 3 Gaucher disease, a case report shows. The child developed breathing difficulties and low blood oxygen despite being diagnosed early and starting enzyme replacement therapy (ERT). Because doctors suspected inflammation…
Differences in nerve cell function may explain why some people with Gaucher disease develop the neurodegenerative Parkinson’s disease and others do not, a study found. When researchers compared nerve cells derived from siblings with Gaucher with different outcomes — one developed Parkinson’s while the other did not — they found…
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…
