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

Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Benzhydryl Compounds
  • Child
  • Child, Preschool
  • Glucosides
  • Glycogen Storage Disease Type I* / drug therapy
  • Glycogen Storage Disease Type I* / pathology
  • Granulocyte Colony-Stimulating Factor / therapeutic use
  • Humans
  • Infant
  • Infant, Newborn
  • Neutropenia* / drug therapy
  • Retrospective Studies
  • Surveys and Questionnaires
  • Young Adult


  • Benzhydryl Compounds
  • Glucosides
  • Granulocyte Colony-Stimulating Factor
  • empagliflozin

Supplementary concepts

  • Glycogen Storage Disease IB