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Gruenert, Sarah C.; Derks, Terry G. J.; Adrian, Katarina; Al-Thihli, Khalid; Ballhausen, Diana; Bidiuk, Joanna; Bordugo, Andrea; Boyer, Monica; Bratkovic, Drago; Brunner-Krainz, Michaela; Burlina, Alberto; Chakrapani, Anupam; Corpeleijn, Willemijn; Cozens, Alison; Dawson, Charlotte; Dhamko, Helena; Milosevic, Maja Djordjevic; Eiroa, Hernan; Finezilber, Yael; Moura de Souza, Carolina Fischinger; Concepcion Garcia-Jimenez, Maria; Gasperini, Serena; Haas, Dorothea; Haeberle, Johannes; Halligan, Rebecca; Fung, Law Hiu; Hoerbe-Blindt, Alexandra; Horka, Laura Maria; Huemer, Martina; Ucar, Sema Kalkan; Kecman, Bozica; Kilavuz, Sebile; Krivan, Gergely; Lindner, Martin; Luesebrink, Natalia; Makrilakis, Konstantinos; Kwok, Anne Mei-Kwun; Maier, Esther M.; Maiorana, Arianna; McCandless, Shawn E.; Mitchell, John James; Mizumoto, Hiroshi; Mundy, Helen; Ochoa, Carlos; Pierce, Kathryn; Quijada Fraile, Pilar; Regier, Debra; Rossi, Alessandro; Santer, Rene; Schuman, Hester C.; Sobieraj, Piotr; Spenger, Johannes; Spiegel, Ronen; Stepien, Karolina M.; Tal, Galit; Tansek, Mojca Zerjav; Torkar, Ana Drole; Tchan, Michel; Thyagu, Santhosh; Vergano, Samantha A. Schrier; Vucko, Erika; Weinhold, Natalie; Zsidegh, Petra and Wortmann, Saskia B. (2022): Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire. In: Genetics in Medicine, Vol. 24, No. 8: pp. 1781-1788

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Abstract

Purpose: This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib). Methods: This is an international retrospective questionnaire study on the safety and efficacy of empagliflozin use for management of neutropenia/neutrophil dysfunction in patients with GSD Ib, conducted among the respective health care providers from 24 countries across the globe. Results: Clinical data from 112 individuals with GSD Ib were evaluated, representing a total of 94 treatment years. The median age at start of empagliflozin treatment was 10.5 years (range = 0-38 years). Empagliflozin showed positive effects on all neutrophil dysfunction-related symptoms, including oral and urogenital mucosal lesions, recurrent infections, skin abscesses, inflammatory bowel disease, and anemia. Before initiating empagliflozin, most patients with GSD Ib were on G-CSF (94/112;84%). At the time of the survey, 49 of 89 (55%) patients previously treated with G-CSF had completely stopped G-CSF, and another 15 (17%) were able to reduce the dose. The most common adverse event during empagliflozin treatment was hypoglycemia, occurring in 18% of individuals. Conclusion: Empagliflozin has a favorable effect on neutropenia/neutrophil dysfunction-related symptoms and safety profile in individuals with GSD Ib. (C) 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.

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