ArticleOrphanet journal of rare diseases2022
Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- Safety of SGLT-2 inhibitors in patients with glycogen storage disease type Ib and their efficacy in treating disease-associated digestive symptoms and disorders.Acta diabetologica · 2026Pooled it
- Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.Paediatric drugs · 2024Pooled it
- Effect of canagliflozin on white blood cell counts in patients with type 2 diabetes and heart failure: A subanalysis of the randomized CANDLE trial.Journal of diabetes investigation · 2022Trial
- Empagliflozin in GSD-Ib: Long-term safety and sustained recovery of neutrophil function including NET formation.Molecular genetics and metabolism reports · 2026Article
- Empagliflozin as treatment in glycogen storage disease type IB patients.Molecular genetics and metabolism reports · 2025Article
- Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.BMC medical genomics · 2025Article
- Sodium glucose co-transporter 2 inhibitors (SGLT2i) for pediatric kidney disease: the future is near.Frontiers in pediatrics · 2025Review
- Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.Reviews in endocrine & metabolic disorders · 2024Review
- Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin.Blood advances · 2024Article
- 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 journal of rare diseases · 2024Article
- Safety and tolerability of sodium-glucose cotransporter-2 inhibitors in children and young adults: a systematic review and meta-analysis.Annals of pediatric endocrinology & metabolism · 2024Article
- Case report: The success of empagliflozin therapy for glycogen storage disease type 1b.Frontiers in endocrinology · 2024Article
- SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia.Cellular and molecular life sciences : CMLS · 2023Article
- Gluconeogenesis in the kidney: in health and in chronic kidney disease.Clinical kidney journal · 2023Review
- Glycogen storage diseases: An update.World journal of gastroenterology · 2023Review
- Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors.Diagnostics (Basel, Switzerland) · 2023Review
- Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study.JIMD reports · 2023Article
- Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.Molecular genetics and metabolism · 2023Review
- Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design usingMolecular genetics and metabolism reports · 2023Article
- Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders.Frontiers in endocrinology · 2023Review
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGlycogen storage disease type Ib (GSD Ib) is a severe disorder of carbohydrate metabolism due to bi-allelic variants in SLC37A4. It is associated with neutropaenia and neutrophil dysfunction, which has recently been attributed to the accumulation of 1,5-anhydroglucitol-6-phosphate (1,5AG6P) within neutrophils. Treatment with sodium-glucose co-transporter-2 (SGLT2) inhibitors, such as empagliflozin, is a novel therapy that reduces 1,5-anhydroglucitol (1,5AG) in plasma.
resultsWe report our experience in treating 8 paediatric GSD Ib patients with empagliflozin with a cumulative treatment time greater than 12 years. Treatment with a median dose of 5 mg (0.22 mg/kg height weight) of empagliflozin resulted in improvement in bowel health, growth, and laboratory parameters. Plasma 1,5AG levels reduced by a median of 78%. Baseline 1,5AG levels in our cohort were higher than in adult patients with GSD Ib. Hypoglycaemia on empagliflozin treatment occurred in 50% of our cohort.
conclusionWe report the largest single centre cohort of GSD Ib patients treated with empagliflozin to date. Treatment with SGLT2 inhibitors is a novel and favourable treatment option for neutropaenia and neutrophil dysfunction in GSD Ib. We suggest a low starting dose of empagliflozin with careful titration due to the risk of hypoglycaemia. The interpretation of 1,5AG levels and their role in treatment monitoring is yet to be established, and requires ongoing research.
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