How does it work?
Fabry disease is a rare genetic disorder caused by mutations in the gene that encodes for an enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down a type of fat molecule called globotriaosylceramide (Gb3 or GL-3).
The mutations mean that the enzyme cannot function properly, resulting in a buildup of Gb3 in cells and tissues. That buildup interferes with their function and causes the symptoms of the disease, which can lead to damage mainly to the heart and the kidneys.
There currently is no cure for Fabry disease. However, there are treatments that can help manage symptoms and slow disease progression.
One avenue of therapy that might offer a permanent treatment is gene therapy. It involves supplying a healthy copy of the faulty gene to patients’ cells. In order to introduce genetic material into cells, a vector or “gene carrier” is necessary. ST-920 contains a modified adeno-associated viral vector (AAV). This is a virus that researchers have modified in a way that it cannot cause disease.
Researchers developed ST-920 as an injectable treatment into the bloodstream. They don’t yet know whether a single injection will be sufficient for a patient’s lifetime, or whether successive treatments will be necessary.
ST-920 in clinical trials
In a pre-clinical mouse model of Fabry, a single treatment with ST-920 was sufficient to lead to significant increases in alpha-galactosidase A and marked reductions in Gb3 buildup in tissues.
Based on these results, the scientists started a first-in-human Phase 1/2 clinical trial (NCT04046224) to test the safety and efficacy of increasing doses of a single infusion of ST-920. The trial is currently recruiting about 30 males with Fabry disease in Georgia, Minnesota, New York, Ohio, and Virginia. More information on enrollment can be found here.
Following the therapy’s injection, the participants will be followed for one year (52 weeks) to observe any changes in symptoms or side effects of the medication. This trial is due to conclude in November 2021.
Last updated: Aug. 24, 2020
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