Related Experiment Video
Updated: Jul 4, 2025
Improving IV Insulin Administration in a Community Hospital
Published on: June 11, 2012
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction
Sarah C Grünert1, Terry G J Derks2, Helen Mundy3
1Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Centre- University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Insights
Empagliflozin offers a new treatment for Glycogen Storage Disease type Ib (GSD Ib) by addressing neutropenia symptoms. Expert consensus provides 14 recommendations for its safe and effective use in GSD Ib patients.
Area of Science:
- Biochemistry
- Genetics
- Pharmacology
Background:
- Glycogen storage disease type Ib (GSD Ib) is a rare metabolic disorder characterized by neutropenia and neutrophil dysfunction.
- Empagliflozin, an SGLT2 inhibitor, has emerged as a treatment targeting symptoms associated with neutropenia in GSD Ib since 2019.
- Limited published evidence necessitates expert consensus for evidence-based treatment guidelines.
Purpose of the Study:
- To establish best practice consensus treatment recommendations for empagliflozin in GSD Ib patients.
- To provide guidance on the safe and effective use of empagliflozin, addressing its mechanism-based action on neutropenia-related symptoms.
- To consolidate expert opinion and published evidence into actionable recommendations for managing GSD Ib.
Main Methods:
- An international group of experts convened to review published evidence and expert practice.
- Fourteen best practice consensus treatment recommendations were developed.
- Recommendations cover initiation, dosing, monitoring, and special circumstances for empagliflozin use in GSD Ib.
Main Results:
- Recommendations include starting empagliflozin (0.3-0.4 mg/kg/d) in GSD Ib patients with neutropenia signs, adaptable dosing, and outpatient initiation.
- Specific guidance is provided on pausing empagliflozin during dehydration or before surgery, attempting G-CSF discontinuation, and monitoring 1,5-AG.
- Encouragement for starch reintroduction and recommendations for monitoring safety, efficacy, and glucose levels are included, with considerations for pregnancy and liver transplantation.
Conclusions:
- Empagliflozin represents a significant therapeutic advance for GSD Ib, targeting neutropenia-related complications.
- The consensus recommendations provide a framework for optimizing empagliflozin therapy in GSD Ib.
- Further research and monitoring are essential to refine guidelines and ensure long-term safety and efficacy.
Abstract:
Glycogen storage disease type Ib (GSD Ib, biallelic variants in SLC37A4) is a rare disorder of glycogen metabolism complicated by neutropenia/neutrophil dysfunction. Since 2019, the SGLT2-inhibitor empagliflozin has provided a mechanism-based treatment option for the symptoms caused by neutropenia/neutrophil dysfunction (e.g. mucosal lesions, inflammatory bowel disease). Because of the rarity of GSD Ib, the published evidence on safety and efficacy of empagliflozin is still limited and does not allow to develop evidence-based guidelines. Here, an international group of experts provides 14 best practice consensus treatment recommendations based on expert practice and review of the published evidence. We recommend to start empagliflozin in all GSD Ib individuals with clinical or laboratory signs related to neutropenia/neutrophil dysfunction with a dose of 0.3-0.4 mg/kg/d given as a single dose in the morning. Treatment can be started in an outpatient setting. The dose should be adapted to the weight and in case of inadequate clinical treatment response or side effects. We strongly recommend to pause empagliflozin immediately in case of threatening dehydration and before planned longer surgeries. Discontinuation of G-CSF therapy should be attempted in all individuals. If available, 1,5-AG should be monitored. Individuals who have previously not tolerated starches should be encouraged to make a new attempt to introduce starch in their diet after initiation of empagliflozin treatment. We advise to monitor certain safety and efficacy parameters and recommend continuous, alternatively frequent glucose measurements during the introduction of empagliflozin. We provide specific recommendations for special circumstances like pregnancy and liver transplantation.
More Related Videos
08:15Author Spotlight: Network Pharmacology and Molecular Docking to Decipher the Action of Jiawei Shengjiang San Against Diabetic Kidney Disease
Published on: May 10, 2024
14:18Author Spotlight: Investigating the Potential of Chinese Herbal Medicinal Active Dioscin in Treating IgA Nephropathy
Published on: October 13, 2023
Related Concept Videos
01:15Hypoglycemia and Glucagon
01:24Glucagon-like Receptor Agonists
GLP-1, when administered in high doses intravenously, triggers insulin secretion, inhibits glucagon release, slows gastric emptying, reduces food intake, and restores normal insulin secretion. However, its rapid inactivation by...
01:26Oral Hypoglycemic Agents: Biguanides and Glitazones
01:06Oral Hypoglycemic Agents: Glinides
01:23Dipeptidyl Peptidase 4 Inhibitors
01:15Diabetes: Management and Pharmacotherapy
Insulin remains the cornerstone of treatment for most patients with type 1 and many...