The current standard-of-care for Fabry disease is called enzyme replacement therapy (ERT). According to Fabry Disease News, researchers have been working to evaluate an experimental ERT for patients called ISU303. Developed by ISU Abxis, ISU303 is a novel agalsidase beta formula delivered intravenously. The therapy works to deliver working alpha-galactosidase A (α-Gal A), a type of enzyme, to patients. Findings from the clinical trial highlight that ISU303 seems to be safe, well-tolerated, and effective, showing promise for the future of Fabry disease treatment.
Within the research article, published in Medicine, the authors explore the study and its findings. 10 individuals with Fabry disease enrolled in the trial. Of these, 70% were male and 30% were female. 80% of patients were previously treated, while 20% had never received ERT in the past. Over a 6-month period, patients were given a 1mg/kg dose of ISU303 every other week. Only 90% of patients completed the study. However, this was not due to adverse events or any other tolerability issues; rather, the patient discovered that she was pregnant.
The study found that ISU303 helped reduce globotriaosylceramide (a type of lipid) levels in the body significantly; in fact, the study, on average, reduced these levels by just under 50%. Globotriaosylceramide was also reduced in urinary output. ISU303 was also found to be relatively safe and well-tolerated. Adverse reactions included fatigue and drowsiness, fever and chills, and some dizziness.
Given that this study seemed to reduce globotriaosylceramide levels while providing a solid quality-of-life to patients, it shows promise for a potential upcoming Fabry disease treatment.
What is Fabry Disease?
Fabry disease is a rare inherited lysosomal storage disorder caused by GLA gene mutations. Normally, this gene helps encode for the production of α-Gal A, which helps to break down globotriaosylceramide. However, these gene mutations prevent the body from producing enough α-Gal A. As a result, globotriaosylceramide accumulates in cells throughout the body. Fabry disease may be considered classic or late-onset. Typically, Fabry disease is thought to affect males at a higher rate than females. But a growing understanding of Fabry disease in females highlights how women often experience pain, gastrointestinal symptoms, and cerebrovascular events. An increased understanding of Fabry disease and its effects on males vs. females is needed.
Symptoms can (but do not always) include:
- Acroparesthesias (recurrent burning or pain in the hands and feet)
- Hypohidrosis (loss of ability to sweat)
- Hearing loss
- Tinnitus (ringing in the ears)
- Angiokeratomas (small bundles of red spots on the skin)
- Dull, cloudy vision
- Swelling in the hands, legs, and feet
- Heat or cold intolerance
- Diarrhea or constipation
- Abdominal pain
This is not an exhaustive list of symptoms.