Interpretation of the 2024 international consensus: recommendations for empagliflozin in the treatment of neutropenia and neutrophil dysfunction associated with glycogen storage disease type Ib_Chinese Journal of Evidence-Based Medicine

Authors：

WANG Yunsheng ,  ZHANG Chenmei , ZHAO Shiguo , CHEN Zhenjie , YANG Zihao , XIA Shanshan

Children’s Hospital, Zhejiang University School of Medicine; National Clinical Research Center for Child Health, Hangzhou 310052, P. R. China;

Corresponding author：

ZHANG Chenmei, Email: chzcm@zju.edu.cn

Keywords：

Glycogen storage disease type Ib; Neutropenia; Neutrophil dysfunction; Empagliflozin; Guideline; Expert consensus

DOI：

10.7507/1672-2531.202501039

Video：

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Glycogen storage disease type Ib (GSD Ib) is a rare disorder of glycogen metabolism, often complicated by neutropenia/neutrophil dysfunction, leading to recurrent infections and the development of inflammatory bowel disease (IBD), which severely impacts patients’ quality of life. Empagliflozin, an SGLT2 inhibitor, has demonstrated the ability to restore neutrophil counts and function, thereby improving the immunodeficiency state in GSD Ib patients. This consensus aims to provide clinical practice recommendations for the use of empagliflozin in GSD Ib based on current evidence and expert experience. The purpose of this document is to outline these key points and offer guidance for the clinical application of empagliflozin in GSD Ib.

Citation： WANG Yunsheng, ZHANG Chenmei, ZHAO Shiguo, CHEN Zhenjie, YANG Zihao, XIA Shanshan. Interpretation of the 2024 international consensus: recommendations for empagliflozin in the treatment of neutropenia and neutrophil dysfunction associated with glycogen storage disease type Ib. Chinese Journal of Evidence-Based Medicine, 2025, 25(7): 864-868. doi: 10.7507/1672-2531.202501039 Copy

1.	Zhong J, Gou Y, Zhao P, et al. Glycogen storage disease type I: genetic etiology, clinical manifestations, and conventional and gene therapies. Pediatr Discov, 2023, 1(2): e3.
2.	Grünert SC, Derks TGJ, Adrian K, et al. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire. Genet Med, 2022, 24(8): 1781-1788.
3.	Grünert SC, Derks TGJ, Mundy H, et al. Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: consensus from an international workshop. Mol Genet Metab, 2024, 141(3): 108144.
4.	Laffel LMB, Tamborlane WV, Yver A, et al. Pharmacokinetic and pharmacodynamic profile of the sodium-glucose co-transporter-2 inhibitor empagliflozin in young people with type 2 diabetes: a randomized trial. Diabet Med, 2018, 35(8): 1096-1104.
5.	Li Z, Zhang X, Chen H, et al. Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial. Sci Rep, 2024, 14(1): 8630.
6.	Wortmann SB, Van Hove JLK, Derks TGJ, et al. Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood, 2020, 136(9): 1033-1043.
7.	Halligan RK, Dalton RN, Turner C, et al. Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre. Orphanet J Rare Dis, 2022, 17(1): 195.
8.	姜静靖, 马明圣, 魏珉, 等. 恩格列净在糖原贮积病Ⅰb型患儿中的应用现状调查. 中华儿科杂志, 2024, 62(6): 526-529.
9.	Grünert SC, Rosenbaum-Fabian S, Schumann A, et al. Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib. JIMD Rep, 2022, 63(4): 303-308.
10.	Muller DRP, Stenvers DJ, Malekzadeh A, et al. Effects of GLP-1 agonists and SGLT2 inhibitors during pregnancy and lactation on offspring outcomes: a systematic review of the evidence. Front Endocrinol (Lausanne), 2023, 14: 1215356.
11.	Shao YX, Liang CL, Su YY, et al. Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study. Orphanet J Rare Dis, 2024, 19(1): 155.

1. Zhong J, Gou Y, Zhao P, et al. Glycogen storage disease type I: genetic etiology, clinical manifestations, and conventional and gene therapies. Pediatr Discov, 2023, 1(2): e3.
2. Grünert SC, Derks TGJ, Adrian K, et al. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire. Genet Med, 2022, 24(8): 1781-1788.
3. Grünert SC, Derks TGJ, Mundy H, et al. Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: consensus from an international workshop. Mol Genet Metab, 2024, 141(3): 108144.
4. Laffel LMB, Tamborlane WV, Yver A, et al. Pharmacokinetic and pharmacodynamic profile of the sodium-glucose co-transporter-2 inhibitor empagliflozin in young people with type 2 diabetes: a randomized trial. Diabet Med, 2018, 35(8): 1096-1104.
5. Li Z, Zhang X, Chen H, et al. Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial. Sci Rep, 2024, 14(1): 8630.
6. Wortmann SB, Van Hove JLK, Derks TGJ, et al. Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood, 2020, 136(9): 1033-1043.
7. Halligan RK, Dalton RN, Turner C, et al. Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre. Orphanet J Rare Dis, 2022, 17(1): 195.
8. 姜静靖, 马明圣, 魏珉, 等. 恩格列净在糖原贮积病Ⅰb型患儿中的应用现状调查. 中华儿科杂志, 2024, 62(6): 526-529.
9. Grünert SC, Rosenbaum-Fabian S, Schumann A, et al. Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib. JIMD Rep, 2022, 63(4): 303-308.
10. Muller DRP, Stenvers DJ, Malekzadeh A, et al. Effects of GLP-1 agonists and SGLT2 inhibitors during pregnancy and lactation on offspring outcomes: a systematic review of the evidence. Front Endocrinol (Lausanne), 2023, 14: 1215356.
11. Shao YX, Liang CL, Su YY, et al. Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study. Orphanet J Rare Dis, 2024, 19(1): 155.

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