This week, on Oct. 1, the International Gaucher Alliance (IGA) is marking International Gaucher Day with the theme “Equity in Action,” highlighting that people with Gaucher disease may be at different stages of their journey and should have access to information, care, and support wherever they are. This…
News
Skin changes may be more widespread in people with type 1 Gaucher disease (GD1) than previously recognized, with nearly all study participants having at least one, a study shows. The skin manifestations included previously underrecognized changes such as redness of the palms, atypical spots of skin discoloration, and rosacea…
Measuring liver stiffness using a noninvasive imaging technique called magnetic resonance elastography (MRE) may help track disease severity and progression in people with Gaucher disease, a recent study shows. The technique, which combines MRI with low-frequency vibrations to measure organ stiffness, may detect subtle liver changes before more advanced…
Treatment with enzyme replacement therapy (ERT) led to lasting improvements across several laboratory and clinical measures of Gaucher disease in patients from India, despite many starting treatment only after developing advanced disease, a large study found. Most benefits emerged within the first few years of treatment and were…
Among adults receiving treatment for Gaucher disease type 1, greater pain and fatigue were associated with poorer health-related quality of life, according to a study highlighting the need for greater recognition and more targeted care for these persistent symptoms. “These findings support routine integration of validated patient-reported outcome measures…
The first patient has been dosed in a global clinical trial testing the safety and efficacy of FLT201 (avigbagene parvec), an investigational gene therapy that Spur Therapeutics is developing for Gaucher disease type 1. The Phase 3Â trial (NCT07223944) is recruiting up to 45 adults with Gaucher disease…
The European Medicines Agency has given orphan drug designation to YH35995, Yuhan Corporation‘s investigational oral therapy for Gaucher disease, following a similar decision from the U.S. Food and Drug Administration in April. Orphan drug designation is granted to medicines for rare diseases, defined in the European Union as…
Levels of the Gaucher disease biomarker glucosylsphingosine (lyso-Gb1) can have different trajectories in people who aren’t actively receiving treatment, a study found. While most untreated patients showed relatively little change in lyso-Gb1 over time, more than one-third experienced increases in the biomarker, which weren’t always associated with immediate disease…
Adults with Gaucher disease type 1 may develop subtle signs of heart dysfunction long before they experience symptoms or show abnormalities on standard heart tests, according to a small new study from Turkey. The researchers found that an advanced heart imaging scan — an ultrasound technique called speckle-tracking echocardiography,…
People with Gaucher disease type 1 are known to be at increased risk of Parkinson’s disease, but data from a new study show that fewer than 15% of those with this disease type — marked by an absence of neurological symptoms — will develop Parkinson’s in their lifetime.
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