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During the congress, E-Posters will be accessible to all participants on the congress website 24/7, as well as in the E-poster stations in the congress center.
Preparing your E-Poster
Please review the E-Poster format requirements carefully when preparing your E-Poster. Should your E-Poster not meet the mentioned requirements, it may not be displayed as described above.
E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
Please follow the instructions below to input your abstract title.
Abstract titles should be brief and reflect the content of the abstract.
Glycogen storage disease type Ib (GSD-Ib) is an ultrarare inborn error of glycogen metabolism caused by biallelic pathogenic variants in SLC37A4, encoding glucose-6-phosphate translocase (G6PT). The disorder manifests with recurrent fasting hypoglycemia, hepatomegaly, neutropenia, neutrophil dysfunction, inflammatory bowel disease (IBD), mucosal lesions, and progressive kidney disease. Accumulation of 1,5-anhydroglucitol-6-phosphate (1,5-AG6P) in granulocytes induces energy deficiency and apoptosis, causing neutropenia and associated complications. Sodium-glucose cotransporter-2 inhibitors (SGLT2is) reduce renal reabsorption of 1,5-anhydroglucitol (1,5-AG), potentially ameliorating neutropenia. Progressive proteinuria represents a serious complication leading to chronic kidney disease (CKD). This study evaluated the efficacy and safety of empagliflozin and angiotensin II receptor blockers (ARBs) in managing neutropenia, IBD activity, and proteinuria in GSD-Ib patients.
Two GSD-Ib patients (20-year-old M, 33-year-old M) with confirmed SLC37A4 mutations were treated with empagliflozin. Patient 1 received empagliflozin at an empirical dose with concurrent valsartan 40 mg daily for proteinuria. Patient 2 initiated empagliflozin 5 mg, titrated to 10 mg, then 10 mg twice daily, and finally 25 mg after 3 months, with pre-existing valsartan 40 mg daily. Both patients had chronic neutropenia requiring granulocyte colony-stimulating factor (G-CSF, filgrastim) and active Crohn's disease. Serial monitoring included complete blood counts, erythrocyte sedimentation rate (ESR), uric acid (UA), fractional excretion of UA (FEUA), and urine protein-creatinine ratio (UPCR). Follow-up duration was 30 months.
Following empagliflozin therapy, both patients demonstrated significant improvement in white blood cell (WBC) counts, allowing discontinuation of filgrastim in Patient 1 after WBC normalization and in Patient 2 one month after WBC normalization. ESR gradually decreased, indicating improved Crohn's disease activity. UA levels decreased while FEUA increased, demonstrating enhanced uric acid excretion. These effects persisted throughout the 30-month follow-up. Regarding renal outcomes, Patient 1's UPCR decreased from 885.91 mg per g to less than 200 mg per g with concurrent ARB therapy and remained controlled for 30 months. Patient 2 continued stable microalbuminuria management with valsartan. No significant adverse events were observed. Treatment was well-tolerated without hypoglycemic episodes or other safety concerns.
Empagliflozin demonstrated safe and effective treatment for neutropenia and Crohn's disease in GSD-Ib patients, enabling G-CSF discontinuation while simultaneously ameliorating hyperuricemia. ARB therapy effectively controlled proteinuria, preventing CKD progression. This case series suggests empagliflozin combined with ARBs represents a promising therapeutic strategy addressing multiple complications of GSD-Ib. The sustained 30-month benefit supports long-term efficacy. Further studies with larger cohorts are warranted to establish standardized treatment protocols and evaluate long-term renal and hematological outcomes in GSD-Ib patients treated with this dual therapeutic approach.
