@article{3220819,
    title = "Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire",
    author = "Grünert, S.C. and Derks, T.G.J. and Adrian, K. and Al-Thihli, K. and Ballhausen, D. and Bidiuk, J. and Bordugo, A. and Boyer, M. and Bratkovic, D. and Brunner-Krainz, M. and Burlina, A. and Chakrapani, A. and Corpeleijn, W. and Cozens, A. and Dawson, C. and Dhamko, H. and Milosevic, M.D. and Eiroa, H. and Finezilber, Y. and Moura de Souza, C.F. and Garcia-Jiménez, M.C. and Gasperini, S. and Haas, D. and Häberle, J. and Halligan, R. and Fung, L.H. and Hörbe-Blindt, A. and Horka, L.M. and Huemer, M. and Uçar, S.K. and Kecman, B. and Kilavuz, S. and Kriván, G. and Lindner, M. and Lüsebrink, N. and Makrilkakis, K. and Mei-Kwun Kwok, A. and Maier, E.M. and Maiorana, A. and McCandless, S.E. and Mitchell, J.J. and Mizumoto, H. and Mundy, H. and Ochoa, C. and Pierce, K. and Fraile, P.Q. and Regier, D. and Rossi, A. and Santer, R. and Schuman, H.C. and Sobieraj, P. and Spenger, J. and Spiegel, R. and Stepien, K.M. and Tal, G. and Tanšek, M.Z. and Torkar, A.D. and Tchan, M. and Thyagu, S. and Schrier Vergano, S.A. and Vucko, E. and Weinhold, N. and Zsidegh, P. and Wortmann, S.B.",
    journal = "Genetics in Medicine",
    year = "2022",
    publisher = "Elsevier B.V.",
    issn = "1098-3600, 1530-0366",
    doi = "10.1016/j.gim.2022.04.001",
    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. © 2022 The Authors"
}