Magdalena Kaczor, Stanislaw Malicki, Justyna Folkert, Ewelina Dobosz, Danuta Bryzek, Barbara Chruścicka-Smaga, Milena Greczan, Dorota Wesół-Kucharska, Barbara Piatosa, Emilia Samborowska, Joanna Madzio, Janusz Książyk, Ewa Ehmke Vel Emczyńska, Małgorzata Hajdacka, Jan Potempa, Wojciech Młynarski, Dariusz Rokicki, Florian Veillard
Neutropenia and neutrophil dysfunction in glycogen storage disease type 1b (GSD1b) are caused by the accumulation of 1,5-anhydroglucitol-6-phosphate (1,5-AG6P) in granulocytes. The antidiabetic drug empagliflozin reduces the concentration of 1,5-anhydroglucitol (1,5 AG), thus restoring neutrophil counts and functions, leading to promising results in previous case reports. Here, we present a comprehensive analysis of neutrophil function in seven GSD1b patients and 11 healthy donors, aiming to evaluate the immediate (after 3 months) and long-term (after 12 months) efficacy of empagliflozin compared to the reference treatment with granulocyte-colony stimulating factor (G-CSF)...
March 26, 2024: Blood Advances