Sarah C Grünert, Matthias Gautschi, Joshua Baker, Monica Boyer, Alberto Burlina, Thomas Casswall, Willemijn Corpeleijn, Kismet Çıki, Melanie Cotter, Ellen Crushell, Terry G J Derks, Dorothea Haas, Sebile Kilavuz, Sandra D K Kingma, Stanley H Korman, Anne Kozek, Corinne de Laet, Helen Mundy, Marie Cecile Nassogne, Victor Quintero, Alessandro Rossi, Johannes Spenger, Ronen Spiegel, Xavier Stephenne, Darko Stojkov, Galit Tal, Maria Veiga-da Cunha, Saskia B Wortmann
Empagliflozin has been successfully repurposed for treating neutropenia and neutrophil dysfunction in patients with glycogen storage disease type 1b (GSD 1b), however, data in infants are missing. We report on efficacy and safety of empagliflozin in infants with GSD 1b. This is an international retrospective case series on 21 GSD 1b infants treated with empagliflozin (total treatment time 20.6 years). Before starting empagliflozin (at a median age of 8.1 months with a median dose of 0.3 mg/kg/day) 12 patients had clinical signs and symptoms of neutrophil dysfunction...
April 27, 2024: Molecular Genetics and Metabolism