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DOI 10.1016/j.gim.2022.04.001

Медицинская библиотека · Genetics in medicine : official journal of the American College of Medical Genetics · 2022

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

Grünert 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, Garcia-Jiménez Maria Concepción, Gasperini Serena, Haas Dorothea, Häberle Johannes, Halligan Rebecca, Fung Law Hiu, Hörbe-Blindt Alexandra, Horka Laura Maria, Huemer Martina, Uçar Sema Kalkan, Kecman Bozica, Kilavuz Sebile, Kriván Gergely, Lindner Martin, Lüsebrink Natalia, Makrilakis Konstantinos, Mei-Kwun Kwok Anne, Maier Esther M, Maiorana Arianna, McCandless Shawn E, Mitchell John James, Mizumoto Hiroshi, Mundy Helen, Ochoa Carlos, Pierce Kathryn, Fraile Pilar Quijada, Regier Debra, Rossi Alessandro, Santer René, Schuman Hester C, Sobieraj Piotr, Spenger Johannes, Spiegel Ronen, Stepien Karolina M, Tal Galit, Tanšek Mojca Zerjav, Torkar Ana Drole, Tchan Michel, Thyagu Santhosh, Schrier Vergano Samantha A, Vucko Erika, Weinhold Natalie, Zsidegh Petra, Wortmann Saskia B

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Аннотация

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.

Для цитирования: Grünert 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, Garcia-Jiménez Maria Concepción, Gasperini Serena, Haas Dorothea, Häberle Johannes, Halligan Rebecca, Fung Law Hiu, Hörbe-Blindt Alexandra, Horka Laura Maria, Huemer Martina, Uçar Sema Kalkan, Kecman Bozica, Kilavuz Sebile, Kriván Gergely, Lindner Martin, Lüsebrink Natalia, Makrilakis Konstantinos, Mei-Kwun Kwok Anne, Maier Esther M, Maiorana Arianna, McCandless Shawn E, Mitchell John James, Mizumoto Hiroshi, Mundy Helen, Ochoa Carlos, Pierce Kathryn, Fraile Pilar Quijada, Regier Debra, Rossi Alessandro, Santer René, Schuman Hester C, Sobieraj Piotr, Spenger Johannes, Spiegel Ronen, Stepien Karolina M, Tal Galit, Tanšek Mojca Zerjav, Torkar Ana Drole, Tchan Michel, Thyagu Santhosh, Schrier Vergano Samantha A, Vucko Erika, Weinhold Natalie, Zsidegh Petra, Wortmann Saskia B. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.. Genetics in medicine : official journal of the American College of Medical Genetics. 2022. DOI: 10.1016/j.gim.2022.04.001.

Предметные рубрики MeSH

AdolescentAdultBenzhydryl CompoundsChildChild, PreschoolGlucosidesGlycogen Storage Disease Type IGranulocyte Colony-Stimulating FactorHumansInfantInfant, NewbornNeutropeniaRetrospective StudiesSurveys and QuestionnairesYoung Adult
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