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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire

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 fo...

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Hauptverfasser: Grünert, Sarah (VerfasserIn) , Derks, Terry G. J. (VerfasserIn) , Adrian, Katarina (VerfasserIn) , Al-Thihli, Khalid (VerfasserIn) , Ballhausen, Diana (VerfasserIn) , Bidiuk, Joanna (VerfasserIn) , Bordugo, Andrea (VerfasserIn) , Boyer, Monica (VerfasserIn) , Bratkovic, Drago (VerfasserIn) , Brunner-Krainz, Michaela (VerfasserIn) , Burlina, Alberto (VerfasserIn) , Chakrapani, Anupam (VerfasserIn) , Corpeleijn, Willemijn (VerfasserIn) , Cozens, Alison (VerfasserIn) , Dawson, Charlotte (VerfasserIn) , Dhamko, Helena (VerfasserIn) , Milosevic, Maja Djordjevic (VerfasserIn) , Eiroa, Hernan (VerfasserIn) , Finezilber, Yael (VerfasserIn) , Moura de Souza, Carolina Fischinger (VerfasserIn) , Garcia-Jiménez, Maria Concepción (VerfasserIn) , Gasperini, Serena (VerfasserIn) , Haas, Dorothea (VerfasserIn) , Häberle, Johannes (VerfasserIn) , Halligan, Rebecca (VerfasserIn) , Fung, Law Hiu (VerfasserIn) , Hörbe-Blindt, Alexandra (VerfasserIn) , Horka, Laura Maria (VerfasserIn) , Huemer, Martina (VerfasserIn) , Uçar, Sema Kalkan (VerfasserIn) , Kecman, Bozica (VerfasserIn) , Kilavuz, Sebile (VerfasserIn) , Kriván, Gergely (VerfasserIn) , Lindner, Martin (VerfasserIn) , Lüsebrink, Natalia (VerfasserIn) , Makrilakis, Konstantinos (VerfasserIn) , Mei-Kwun Kwok, Anne (VerfasserIn) , Maier, Esther M. (VerfasserIn) , Maiorana, Arianna (VerfasserIn) , McCandless, Shawn E. (VerfasserIn) , Mitchell, John James (VerfasserIn) , Mizumoto, Hiroshi (VerfasserIn) , Mundy, Helen (VerfasserIn) , Ochoa, Carlos (VerfasserIn) , Pierce, Kathryn (VerfasserIn) , Fraile, Pilar Quijada (VerfasserIn) , Regier, Debra (VerfasserIn) , Rossi, Alessandro (VerfasserIn) , Santer, René (VerfasserIn) , Schuman, Hester C. (VerfasserIn) , Sobieraj, Piotr (VerfasserIn) , Spenger, Johannes (VerfasserIn) , Spiegel, Ronen (VerfasserIn) , Stepien, Karolina M. (VerfasserIn) , Tal, Galit (VerfasserIn) , Tanšek, Mojca Zerjav (VerfasserIn) , Torkar, Ana Drole (VerfasserIn) , Tchan, Michel (VerfasserIn) , Thyagu, Santhosh (VerfasserIn) , Schrier Vergano, Samantha A. (VerfasserIn) , Vucko, Erika (VerfasserIn) , Weinhold, Natalie (VerfasserIn) , Zsidegh, Petra (VerfasserIn) , Wortmann, Saskia B. (VerfasserIn)
Dokumenttyp: Article (Journal) Editorial
Sprache:Englisch
Veröffentlicht: 3 May 2022
In: Genetics in medicine
Year: 2022, Jahrgang: 24, Heft: 8, Pages: 1781-1788
ISSN:1530-0366
DOI:10.1016/j.gim.2022.04.001
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.gim.2022.04.001
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1098360022007183
Volltext
Verfasserangaben:Sarah C. Grünert, Terry G.J. Derks, Katarina Adrian, Khalid Al-Thihli, Diana Ballhausen, Joanna Bidiuk, Andrea Bordugo, Monica Boyer, Drago Bratkovic, Michaela Brunner-Krainz, Alberto Burlina, Anupam Chakrapani, Willemijn Corpeleijn, Alison Cozens, Charlotte Dawson, Helena Dhamko, Maja Djordjevic Milosevic, Hernan Eiroa, Yael Finezilber, Carolina Fischinger Moura de Souza, Maria Concepción Garcia-Jiménez, Serena Gasperini, Dorothea Haas, Johannes Häberle, Rebecca Halligan, Law Hiu Fung, Alexandra Hörbe-Blindt, Laura Maria Horka, Martina Huemer, Sema Kalkan Uçar, Bozica Kecman, Sebile Kilavuz, Gergely Kriván, Martin Lindner, Natalia Lüsebrink, Konstantinos Makrilakis, Anne Mei-Kwun Kwok, Esther M. Maier, Arianna Maiorana, Shawn E. McCandless, John James Mitchell, Hiroshi Mizumoto, Helen Mundy, Carlos Ochoa, Kathryn Pierce, Pilar Quijada Fraile, Debra Regier, Alessandro Rossi, René Santer, Hester C. Schuman, Piotr Sobieraj, Johannes Spenger, Ronen Spiegel, Karolina M. Stepien, Galit Tal, Mojca Zerjav Tanšek, Ana Drole Torkar, Michel Tchan, Santhosh Thyagu, Samantha A. Schrier Vergano, Erika Vucko, Natalie Weinhold, Petra Zsidegh, Saskia B. Wortmann

MARC

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245 1 0 |a Efficacy and safety of empagliflozin in glycogen storage disease type Ib  |b data from an international questionnaire  |c Sarah C. Grünert, Terry G.J. Derks, Katarina Adrian, Khalid Al-Thihli, Diana Ballhausen, Joanna Bidiuk, Andrea Bordugo, Monica Boyer, Drago Bratkovic, Michaela Brunner-Krainz, Alberto Burlina, Anupam Chakrapani, Willemijn Corpeleijn, Alison Cozens, Charlotte Dawson, Helena Dhamko, Maja Djordjevic Milosevic, Hernan Eiroa, Yael Finezilber, Carolina Fischinger Moura de Souza, Maria Concepción Garcia-Jiménez, Serena Gasperini, Dorothea Haas, Johannes Häberle, Rebecca Halligan, Law Hiu Fung, Alexandra Hörbe-Blindt, Laura Maria Horka, Martina Huemer, Sema Kalkan Uçar, Bozica Kecman, Sebile Kilavuz, Gergely Kriván, Martin Lindner, Natalia Lüsebrink, Konstantinos Makrilakis, Anne Mei-Kwun Kwok, Esther M. Maier, Arianna Maiorana, Shawn E. McCandless, John James Mitchell, Hiroshi Mizumoto, Helen Mundy, Carlos Ochoa, Kathryn Pierce, Pilar Quijada Fraile, Debra Regier, Alessandro Rossi, René Santer, Hester C. Schuman, Piotr Sobieraj, Johannes Spenger, Ronen Spiegel, Karolina M. Stepien, Galit Tal, Mojca Zerjav Tanšek, Ana Drole Torkar, Michel Tchan, Santhosh Thyagu, Samantha A. Schrier Vergano, Erika Vucko, Natalie Weinhold, Petra Zsidegh, Saskia B. Wortmann 
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520 |a 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. 
650 4 |a Glycogen storage disease type Ib 
650 4 |a GSD Ib 
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