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

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

doi:10.1016/j.gim.2022.04.001

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

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 SouzaMaria 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

^*Corresponding author for this work

Genetics

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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.

Original language	English
Pages (from-to)	1781-1788
Number of pages	8
Journal	Genetics in Medicine
Volume	24
Issue number	8
DOIs	https://doi.org/10.1016/j.gim.2022.04.001
Publication status	Published - Aug 1 2022

Keywords

GSD Ib
Glycogen storage disease type Ib
Neutropenia
SGLT2 inhibitors
SLC37A4
Glycogen Storage Disease Type I/drug therapy
Benzhydryl Compounds
Humans
Child, Preschool
Infant
Granulocyte Colony-Stimulating Factor/therapeutic use
Young Adult
Neutropenia/drug therapy
Adolescent
Adult
Surveys and Questionnaires
Retrospective Studies
Child
Infant, Newborn
Glucosides

ASJC Scopus subject areas

Genetics(clinical)

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10.1016/j.gim.2022.04.001

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Grünert, S. C., Derks, T. G. J., Adrian, K., Al-Thihli, K., Ballhausen, D., Bidiuk, J., Bordugo, A., Boyer, M., Bratkovic, D., Brunner-Krainz, M., Burlina, A., Chakrapani, A., Corpeleijn, W., Cozens, A., Dawson, C., Dhamko, H., Milosevic, M. D., Eiroa, H., Finezilber, Y., ... Wortmann, S. B. (2022). Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire. Genetics in Medicine, 24(8), 1781-1788. https://doi.org/10.1016/j.gim.2022.04.001

Grünert, SC, Derks, TGJ, Adrian, K, Al-Thihli, K, Ballhausen, D, Bidiuk, J, Bordugo, A, Boyer, M, Bratkovic, D, Brunner-Krainz, M, Burlina, A, Chakrapani, A, Corpeleijn, W, Cozens, A, Dawson, C, Dhamko, H, Milosevic, MD, Eiroa, H, Finezilber, Y, Moura de Souza, CF, Garcia-Jiménez, MC, Gasperini, S, Haas, D, Häberle, J, Halligan, R, Fung, LH, Hörbe-Blindt, A, Horka, LM, Huemer, M, Uçar, SK, Kecman, B, Kilavuz, S, Kriván, G, Lindner, M, Lüsebrink, N, Makrilakis, K, Mei-Kwun Kwok, A, Maier, EM, Maiorana, A, McCandless, SE, Mitchell, JJ, Mizumoto, H, Mundy, H, Ochoa, C, Pierce, K, Fraile, PQ, Regier, D, Rossi, A, Santer, R, Schuman, HC, Sobieraj, P, Spenger, J, Spiegel, R, Stepien, KM, Tal, G, Tanšek, MZ, Torkar, AD, Tchan, M, Thyagu, S, Schrier Vergano, SA, Vucko, E, Weinhold, N, Zsidegh, P & Wortmann, SB 2022, 'Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire', Genetics in Medicine, vol. 24, no. 8, pp. 1781-1788. https://doi.org/10.1016/j.gim.2022.04.001

@article{c3387e699819407482066455186986b9,

title = "Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire",

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.",

keywords = "GSD Ib, Glycogen storage disease type Ib, Neutropenia, SGLT2 inhibitors, SLC37A4, Glycogen Storage Disease Type I/drug therapy, Benzhydryl Compounds, Humans, Child, Preschool, Infant, Granulocyte Colony-Stimulating Factor/therapeutic use, Young Adult, Neutropenia/drug therapy, Adolescent, Adult, Surveys and Questionnaires, Retrospective Studies, Child, Infant, Newborn, Glucosides",

author = "Gr{\"u}nert, {Sarah C.} and Derks, {Terry G.J.} and Katarina Adrian and Khalid Al-Thihli and Diana Ballhausen and Joanna Bidiuk and Andrea Bordugo and Monica Boyer and Drago Bratkovic and Michaela Brunner-Krainz and Alberto Burlina and Anupam Chakrapani and Willemijn Corpeleijn and Alison Cozens and Charlotte Dawson and Helena Dhamko and Milosevic, {Maja Djordjevic} and Hernan Eiroa and Yael Finezilber and {Moura de Souza}, {Carolina Fischinger} and Garcia-Jim{\'e}nez, {Maria Concepci{\'o}n} and Serena Gasperini and Dorothea Haas and Johannes H{\"a}berle and Rebecca Halligan and Fung, {Law Hiu} and Alexandra H{\"o}rbe-Blindt and Horka, {Laura Maria} and Martina Huemer and U{\c c}ar, {Sema Kalkan} and Bozica Kecman and Sebile Kilavuz and Gergely Kriv{\'a}n and Martin Lindner and Natalia L{\"u}sebrink and Konstantinos Makrilakis and {Mei-Kwun Kwok}, Anne and Maier, {Esther M.} and Arianna Maiorana and McCandless, {Shawn E.} and Mitchell, {John James} and Hiroshi Mizumoto and Helen Mundy and Carlos Ochoa and Kathryn Pierce and Fraile, {Pilar Quijada} and Debra Regier and Alessandro Rossi and Ren{\'e} Santer and Schuman, {Hester C.} and Piotr Sobieraj and Johannes Spenger and Ronen Spiegel and Stepien, {Karolina M.} and Galit Tal and Tan{\v s}ek, {Mojca Zerjav} and Torkar, {Ana Drole} and Michel Tchan and Santhosh Thyagu and {Schrier Vergano}, {Samantha A.} and Erika Vucko and Natalie Weinhold and Petra Zsidegh and Wortmann, {Saskia B.}",

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month = aug,

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doi = "10.1016/j.gim.2022.04.001",

language = "English",

volume = "24",

pages = "1781--1788",

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T1 - Efficacy and safety of empagliflozin in glycogen storage disease type Ib

T2 - Data from an international questionnaire

AU - Grünert, Sarah C.

AU - Derks, Terry G.J.

AU - Adrian, Katarina

AU - Al-Thihli, Khalid

AU - Ballhausen, Diana

AU - Bidiuk, Joanna

AU - Bordugo, Andrea

AU - Boyer, Monica

AU - Bratkovic, Drago

AU - Brunner-Krainz, Michaela

AU - Burlina, Alberto

AU - Chakrapani, Anupam

AU - Corpeleijn, Willemijn

AU - Cozens, Alison

AU - Dawson, Charlotte

AU - Dhamko, Helena

AU - Milosevic, Maja Djordjevic

AU - Eiroa, Hernan

AU - Finezilber, Yael

AU - Moura de Souza, Carolina Fischinger

AU - Garcia-Jiménez, Maria Concepción

AU - Gasperini, Serena

AU - Haas, Dorothea

AU - Häberle, Johannes

AU - Halligan, Rebecca

AU - Fung, Law Hiu

AU - Hörbe-Blindt, Alexandra

AU - Horka, Laura Maria

AU - Huemer, Martina

AU - Uçar, Sema Kalkan

AU - Kecman, Bozica

AU - Kilavuz, Sebile

AU - Kriván, Gergely

AU - Lindner, Martin

AU - Lüsebrink, Natalia

AU - Makrilakis, Konstantinos

AU - Mei-Kwun Kwok, Anne

AU - Maier, Esther M.

AU - Maiorana, Arianna

AU - McCandless, Shawn E.

AU - Mitchell, John James

AU - Mizumoto, Hiroshi

AU - Mundy, Helen

AU - Ochoa, Carlos

AU - Pierce, Kathryn

AU - Fraile, Pilar Quijada

AU - Regier, Debra

AU - Rossi, Alessandro

AU - Santer, René

AU - Schuman, Hester C.

AU - Sobieraj, Piotr

AU - Spenger, Johannes

AU - Spiegel, Ronen

AU - Stepien, Karolina M.

AU - Tal, Galit

AU - Tanšek, Mojca Zerjav

AU - Torkar, Ana Drole

AU - Tchan, Michel

AU - Thyagu, Santhosh

AU - Schrier Vergano, Samantha A.

AU - Vucko, Erika

AU - Weinhold, Natalie

AU - Zsidegh, Petra

AU - Wortmann, Saskia B.

PY - 2022/8/1

Y1 - 2022/8/1

N2 - 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.

AB - 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.

KW - GSD Ib

KW - Glycogen storage disease type Ib

KW - Neutropenia

KW - SGLT2 inhibitors

KW - SLC37A4

KW - Glycogen Storage Disease Type I/drug therapy

KW - Benzhydryl Compounds

KW - Humans

KW - Child, Preschool

KW - Infant

KW - Granulocyte Colony-Stimulating Factor/therapeutic use

KW - Young Adult

KW - Neutropenia/drug therapy

KW - Adolescent

KW - Adult

KW - Surveys and Questionnaires

KW - Retrospective Studies

KW - Child

KW - Infant, Newborn

KW - Glucosides

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SN - 1098-3600

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JO - Genetics in Medicine

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ER -

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

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