Switching patients who are doing well on their current Gaucher disease treatment to a different medication comes with risks, and it may be “inappropriate” for health insurers to require a change to cut costs, according to a study from Quebec. Gaucher disease patients who switched their enzyme…
News
Bone manifestations — including pain, structural changes, and reduced bone density — are common among people with Gaucher disease in Tunisia, according to a study. Although bone disease affected nearly two-thirds of patients, it was rarely the main reason treatment was started. Only slightly more than half of those…
Available disease-modifying therapies (DMTs) for Gaucher disease can decrease the levels of lyso-Gb1, a biomarker of disease burden, but levels remain significantly above the normal range in treated patients, a study found. “We speculate that the persistently increased lyso-Gb1 levels may have been driven by underlying mechanisms, such as…
Coexistent genetic conditions may contribute to unusual symptoms in people with Gaucher disease, potentially affecting disease progression and management, a study suggested. Researchers found that 17 Gaucher patients with atypical symptoms all had other genetic conditions, showing that understanding genetic factors is important for developing personalized treatments. “This study reframes…
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…
Recent Posts
- FDA grants priority review to treatment aimed at type 3 Gaucher
- Living with a chronic illness that mostly exists in the background
- The diagnosis that was supposed to end my life early set me free to truly live
- Gaucher disease taught me to never take things for granted
- Extending gene tests to Gaucher families enables early detection