Emerging treatments
Gene therapy
Gene therapy has been effective in both a murine and a canine model of GSD Ia.[25][26] Two clinical trials are in progress in humans: a phase 3 clinical trial of AAV8-mediated gene transfer therapy in patients 8 years and older with GSD 1a, and a phase 1-2 mRNA study in adult and pediatric patients with GSD 1a.[27][28]
Sodium-glucose cotransporter-2 (SGLT2) inhibitors
Most patients with GSD Ib have either constant or cyclic neutropenia, the severity of which ranges from mild to complete agranulocytosis and is associated with recurrent bacterial infections. The cause of neutropenia and neutrophil dysfunction in GSD Ib has been associated with accumulating 1,5-anhydroglucitol-6-phosphate and, as a result, may be targeted by SGLT2 inhibitors (e.g., empagliflozin, dapagliflozin).[29][30][31]
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