A 15-month-old girl in Egypt was diagnosed with Gaucher disease after developing severe kidney problems that failed to respond to standard therapies, according to a case report describing what researchers termed a “unique presentation” of Gaucher. While enzyme replacement therapy (ERT) helped ease other Gaucher symptoms for the…
Sharp Therapeutics said it’s arranging a $10 million private investment to advance the development of ‘901, an oral treatment designed to address the neurological and non-neurological symptoms of Gaucher disease. The financing will come through a non-brokered private placement of common stock. STX Partners, Sharp’s largest shareholder, has…
One-time treatment with the gene therapy FLT201 (avigbagene parvec) may help control Gaucher disease without the need for additional therapies, according to new data from four patients in an early clinical trial. Spur Therapeutics, the company developing FLT201, presented the data at the European Society of…
People with Gaucher disease are not at a higher risk of developing cancer, but their risk of blood cancers is higher than in the general population, according to a new analysis. “We demonstrated that patients with GD [Gaucher disease] do not have an increased overall risk of developing cancer.
A bone marrow biopsy — a test that examines the soft tissue inside bones where blood cells are made — proved critical in diagnosing Gaucher disease (GD) in a boy in India with growth delays and a swollen abdomen. The biopsy revealed the presence of Gaucher cells (enlarged foamy…
International Gaucher’s Day on Oct. 1 kicks off Gaucher’s Awareness Month, with patients, families, advocates, and medical professionals coming together to increase understanding and support for those living with Gaucher disease. The 2025 campaign theme, sponsored by the International Gaucher Alliance (IGA), is “See the Signs, Shorten the Diagnostic…
Measuring levels of lyso-Gb1, a fatty molecule often used as a biomarker of Gaucher disease (GD) severity, could help improve the accuracy of diagnostic tests for the rare condition, according to a new report from a South American research team. While low activity of the glucocerebrosidase (GCase) enzyme is…
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…
