Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment

J Inherit Metab Dis. 2024 Mar;47(2):244-254. doi: 10.1002/jimd.12714. Epub 2024 Jan 7.


Off-label repurposing of empagliflozin allows pathomechanism-based treatment of neutropenia/neutrophil-dysfunction in glycogen storage disease type Ib (GSDIb). From a value-based healthcare (VBHC) perspective, we here retrospectively studied patient-reported, clinical and pharmacoeconomic outcomes in 11 GSDIb individuals before and under empagliflozin at two centers (the Netherlands [NL], Austria [AT]), including a budget impact analysis, sensitivity-analysis, and systematic benefit-risk assessment. Under empagliflozin, all GSDIb individuals reported improved quality-of-life-scores. Neutrophil dysfunction related symptoms allowed either granulocyte colony-stimulating factor cessation or tapering. Calculated cost savings per patient per year ranged between € 6482-14 190 (NL) and € 1281-41 231 (AT). The budget impact analysis estimated annual total cost savings ranging between € 75 062-225 716 (NL) and € 37 697-231 790 (AT), based on conservative assumptions. The systematic benefit-risk assessment was favorable. From a VBHC perspective, empagliflozin treatment in GSDIb improved personal and clinical outcomes while saving costs, thereby creating value at multiple pillars. We emphasize the importance to reimburse empagliflozin for GSDIb individuals, further supported by the favorable systematic benefit-risk assessment. These observations in similar directions in two countries/health care systems strongly suggest that our findings can be extrapolated to other geographical areas and health care systems.

Keywords: drug repurposing; glycogen storage disease type Ib; inborn metabolic diseases; off-label treatment; rare diseases; value-based health care.

MeSH terms

  • Benzhydryl Compounds*
  • Glucosides*
  • Glycogen Storage Disease Type I*
  • Humans
  • Retrospective Studies
  • Risk Assessment
  • Value-Based Health Care*


  • empagliflozin
  • Benzhydryl Compounds
  • Glucosides

Supplementary concepts

  • Glycogen Storage Disease IB