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…
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…
