Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.

Grünert, Sarah C; Gautschi, Matthias; Baker, Joshua; Boyer, Monica; Burlina, Alberto; Casswall, Thomas; Corpeleijn, Willemijn; Çıki, Kismet; Cotter, Melanie; Crushell, Ellen; Derks, Terry G J; Haas, Dorothea; Kilavuz, Sebile; Kingma, Sandra D K; Korman, Stanley H; Kozek, Anne; de Laet, Corinne; Mundy, Helen; Nassogne, Marie Cecile; Quintero, Victor; ... (2024). Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b. Molecular genetics and metabolism, 142(2), p. 108486. Elsevier 10.1016/j.ymgme.2024.108486

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Empagliflozin has been successfully repurposed for treating neutropenia and neutrophil dysfunction in patients with glycogen storage disease type 1b (GSD 1b), however, data in infants are missing. We report on efficacy and safety of empagliflozin in infants with GSD 1b. This is an international retrospective case series on 21 GSD 1b infants treated with empagliflozin (total treatment time 20.6 years). Before starting empagliflozin (at a median age of 8.1 months with a median dose of 0.3 mg/kg/day) 12 patients had clinical signs and symptoms of neutrophil dysfunction. Six of these previously symptomatic patients had no further neutropenia/neutrophil dysfunction-associated findings on empagliflozin. Eight patients had no signs and symptoms of neutropenia/neutrophil dysfunction before start and during empagliflozin treatment. One previously asymptomatic individual with a horseshoe kidney developed a central line infection with pyelonephritis and urosepsis during empagliflozin treatment. Of the 10 patients who were treated with G-CSF before starting empagliflozin, this was stopped in four and decreased in another four. Eleven individuals were never treated with G-CSF. While in 17 patients glucose homeostasis remained stable on empagliflozin, four showed glucose homeostasis instability in the introductory phase. In 17 patients, no other side effects were reported, while genital (n = 2) or oral (n = 1) candidiasis and skin infection (n = 1) were reported in the remaining four. Empagliflozin had a good effect on neutropenia/neutrophil dysfunction-related signs and symptoms and a favourable safety profile in infants with GSD 1b and therefore qualifies for further exploration as first line treatment.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Pharmacology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Endocrinology/Metabolic Disorders

UniBE Contributor:

Gautschi, Matthias, Stojkov, Darko

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1096-7206

Publisher:

Elsevier

Language:

English

Submitter:

Pubmed Import

Date Deposited:

13 May 2024 09:57

Last Modified:

31 May 2024 00:15

Publisher DOI:

10.1016/j.ymgme.2024.108486

PubMed ID:

38733639

Uncontrolled Keywords:

Empagliflozin GSD 1b Glycogen storage disease 1b Neutropenia SGLT2-inhibitor SLC37A4 Treatment

BORIS DOI:

10.48350/196706

URI:

https://boris.unibe.ch/id/eprint/196706

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